Atlas of The Newborn Vol 2 - Musculoskeletal Disorders

VOLUME
Musculoskeletal
Disorders
and
Congenital
Deformities
Atlas of the
Newborn
Rudolph
VOLUME
Musculoskeletal
Disorders
and
Congenital
Deformities
Atlas of the
Newborn
Arnold J. Rudolph, M.D.

(Deceased)
Professor of Pediatrics
Baylor Medical College
Houston, Texas
ii
VOLUME
Musculoskeletal
Disorders
and
Congenital
Deformities
Atlas of the
Newborn
(Deceased)
Professor of Pediatrics
Baylor Medical College
Houston, Texas
1997
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Foreword
tinentia pigmenti (Bloch-Sulzberger syndrome) are among the best that I have seen.
Cutaneous manifestations are associated
with many perinatal infections. The varied
manifestations of staphylococcal infection of
the newborn are depicted vividly in photomicrographs of furunculosis, pyoderma, bullous
impetigo, abscesses, parotitis, dacryocystitis,
inastitis, cellulitis, omphalitis, and funisitis.
Streptococcal cellulitis, Haemophilus influenzae cellulitis, and cutaneous manifestations of
listeriosis all are depicted. There are numerous photomicrographs of congenital syphilis,
showing the typical peripheral desquamative
rash on the palms and soles, as well as other
potential skin manifestations of congenital
syphilis which may produce either vesicular,
bullous, or ulcerative lesions. The various
radiologic manifestations of congenital
syphilis, including pneumonia alba, ascites,
growth arrest lines, Wegners sign, periostitis,
and syphilitic osteochondritis, are depicted.
Periostitis of the clavicle (Higoumnakis
sign) is shown in a photograph that also
depicts periostitis of the ribs. A beautiful photomicrograph of Wimbergers sign also has
been included; this sign, which may appear in
an infant with congenital syphilis, reveals
radiolucency due to erosion of the medial
aspect of the proximal tibial metaphysis.
The Atlas also includes a beautiful set of
photographs which delineate the ophthalmologic examination of the newborn. Lesions
which may result from trauma, infection, or
congenital abnormalities are included. There
are numerous photographs of the ocular manifestations of a variety of systemic diseases,
such as Tay-Sachs disease, tuberous sclerosis,
tyrosinase deficiency, and many more.
Photographs of disturbances of each of the
various organ systems, or disorders affecting
such organ systems, also are included along
with numerous photographs of different forms
of dwarfism, nonchromosomal syndromes and
associations, and chromosomal disorders. In
short, this Atlas is the complete visual
textbook of neonatology and will provide any
Sir William Osler stated, There is no more

difficult task in medicine than the art of
observation. The late Arnold Jack Rudolph
was an internationally renowned neonatologist, a teachers teacher, and, above all, one
who constantly reminded us about how much
could be learned by simply observing, in his
case, the newborn infant.
This color atlas of neonatology represents a
distillation of more than 50 years of observing
normal and abnormal newborn infants. The
Atlas begins with a section on the placenta,
its membranes, and the umbilical cord. Jack
Rudolph delighted in giving a lecture entitled
Dont Make Mirth of the Afterbirth, in
which he captivated audiences by showing
them how much you could learn about the
newborn infant from simply observing the
placenta, its membranes, and the umbilical
cord.
In a few more than 60 photomicrographs,
we learn to read the placenta and gain insight
into such disorders as intrauterine growth
retardation, omphalitis, cytomegalic inclusion disease, congenital syphilis, and congenital neuroblastoma. Congenital abnormalities
of every organ system are depicted along with
the appearance of newborn infants who have
been subjected in utero to a variety of different drugs, toxins, or chemicals. We also learn
to appreciate the manifestations of birth trauma and abnormalities caused by abnormal
intrauterine positioning.
More than 250 photographs are used to
illustrate the field of neonatal dermatology.
The collection of photographs used in this
section is superior to that which I have seen
in any other textbook or atlas of neonatology
or dermatology; this section alone makes this
reference a required addition to the library of
any clinician interested in the care of infants
and children. Photographs of the KasabachMerritt syndrome (cavernous hemangioma
with thrombocytopenia), Klippel-Trnaunay
syndrome, Turners syndrome, Waardenburgs
syndrome, neurocutaneous melanosis, mastocytosis (urticaria pigmentosa), and incon-
physician, nurse, or student with a distillation

of 50 years of neonatal experience as viewed
through the eyes of a master clinician.
Arnold Jack Rudolph was born in 1918,
grew up in South Africa, and graduated from
the Witwatersrand Medical School in 1940.
Following residency training in pediatrics at
the Transvaal Memorial Hospital for
Children, he entered private pediatric practice in Johannesburg, South Africa. After
almost a decade, he left South Africa and
moved to Boston, where he served as a Senior
Assistant Resident in Medicine at the
Childrens Medical Center in Boston,
Massachusetts, and subsequently pursued fellowship training in neonatology at the same
institution and at the Boston Lying-In
Hospital, Childrens Medical Center and
Harvard Medical School under Dr. Clement
A. Smith.
In 1961, Dr. Rudolph came to Baylor
College of Medicine in Houston, Texas, the
school at which he spent the remainder of his
career. He was a master teacher, who received
the outstanding teacher award from pediatric
medical students on so many occasions that
he was elected to the Outstanding Faculty
Hall of Fame in 1982. Dr. Rudolph also
received numerous awards over the years from
the pediatric house staffs for his superb teaching skills.
He was the Director of the Newborn
Section in the Department of Pediatrics at
Baylor College of Medicine for many years,
until he voluntarily relinquished that position in 1986 for reasons related to his health.
Nevertheless, Jack Rudolph continued to

work extraordinarily long hours in the care of
the newborn infant, and was at the bedside
teaching both students and house staff, as
well as his colleagues, on a daily basis until
just a few months before his death in July
1995.
Although Dr. Rudolph was the author or
co-author of more than 100 published papers
that appeared in the peer-reviewed medical
literature, his most lasting contribution to
neonatology and to pediatrics is in the legacy
of the numerous medical students, house staff,
fellows, and other colleagues whom he taught
incessantly about how much one could learn
from simply observing the newborn infant.
This Atlas is a tour de force; it is a spectacular
teaching tool that has been developed, collated, and presented by one of the finest clinical neonatologists in the history of medicine.
It is an intensely personal volume that, as Dr.
Rudolph himself states, is not intended to
rival standard neonatology texts, but rather
to supplement them. This statement reveals
Dr. Rudolphs innate modesty, since with the
exception of some discussion on pathogenesis
and treatment, it surpasses most neonatology
texts in the wealth of clinical information
that one can derive from viewing and imbibing its contents. We owe Dr. Rudolph and
those who aided him in this work a debt of
gratitude for making available to the medical
community an unparalleled visual reference
on the normal and abnormal newborn infant.
Ralph D. Feigin, M.D.

June 13, 1996
vi
Preface
I first became attracted to the idea of producing a color atlas of neonatology many
years ago. However, the impetus to synthesize
my experience and compile this current collection was inspired by the frequent requests
from medical students, pediatric house staff,
nurses and others to provide them with a
color atlas of the clinical material provided in
my slide shows. For the past few decades I
have used the medium of color slides and
radiographs as a teaching tool. In these weekly slide shows the normal and abnormal, as
words never can, are illustrated.
I cannot define an elephant but I know one
when I see one.1
The collection of material used has been
added to constantly with the support of the
pediatric house staff who inform me to bring
your camera whenever they see an unusual
clinical finding or syndrome in the nurseries.
A thorough routine neonatal examination
is the inalienable right of every infant. Most
newborn babies are healthy and only a relatively small number may require special care.
It is important to have the ability to distinguish normal variations and minor findings
from the subtle early signs of problems. The
theme that recurs most often is that careful
clinical assessment, in the traditional sense, is
the prerequisite and the essential foundation
for understanding the disorders of the newborn. It requires familiarity with the wide
range of normal, as well as dermatologic, cardiac, pulmonary, gastrointestinal, genitourinary, neurologic, and musculoskeletal disorders, genetics and syndromes. A background
in general pediatrics and a working knowledge of obstetrics are essential. The general
layout of the atlas is based on the above.
Diseases are assigned to each section on the
basis of the most frequent and obvious presenting sign. It seems probable that the findings depicted will change significantly in the
decades to come. In this way duplication has
been kept to a minimum. Additional space

has been devoted to those areas of neonatal
pathology (e.g., examination of the placenta,
multiple births and iatrogenesis) which pose
particular problems or cause clinical concern.
Obviously, because of limitations of space,
it is impossible to be comprehensive and
include every rare disorder or syndrome. I
have tried to select both typical findings and
variations in normal infants and those found
in uncommon conditions. Some relevant
conditions where individual variations need
to be demonstrated are shown in more than
one case.
As the present volume is essentially one of
my personal experience, it is not intended to
rival standard neonatology texts, but is presented as a supplement to them. It seems
logical that references should be to standard
texts or reviews where discussion on pathogenesis, treatment, and references to original
works may be found.
Helen Mintz Hittner, M.D., has been kind
enough to contribute the outstanding section
on neonatal ophthalmology.
I have done my best to make the necessary
acknowledgements to the various sources for
the clinical material. If I have inadvertently
omitted any of those, I apologize. My most
sincere appreciation and thanks to Donna
Hamburg, M.D., Kru Ferry, M.D., Michael
Gomez, M.D., Virginia Schneider, PA, and
Jeff Murray, M.D., who have spent
innumerable hours in organizing and culling
the material from my large collection. We
wish to thank Abraham M. Rudolph, M.D.,
for his assistance in reviewing the material.
We also wish to thank the following people
for their photo contributions to this work:
Cirilo Sotelo-Avila, Stan Connor, Avory
Fanaroff, Milton Finegold, Brian Kershan,
Tom Klima, Susan Landers, Gerardo CaberaMeza, Ken Moise, Don Singer, Edward
Singleton.
vii
It is hoped that this atlas will provide

neonatologists, pediatricians, family physicians, medical students and nurses with a
basis for recognizing a broad spectrum of normal variations and clinical problems as well
as provide them with an overall perspective
of neonatology, a field in which there continues to be a rapid acceleration of knowledge
and technology. One must bear in mind the

caveat that pictures cannot supplant clinical
experience in mastering the skill of visual
recall.
1. Senile dementia of Alzheimers type normal aging or
disease? (Editorial) Lancet 1989; i:476-477.
viii
CONTENTS
Volume II
Musculoskeletal Disorders and
Congenital Deformities
1.
Musculoskeletal Disorders
2.
Dwarfism
53
3.
Non-Chromosomal Syndromes, Associations and Sequences
87
4.
Chromosomal Disorders
159
Index
185
ix
Introduction
Although several texts provide extensive written descriptions of disorders of the newborn
infant, the senses of touch, hearing and, especially, sight, create the most lasting impressions.
Over a period of almost five decades, my brother Jack Rudolph diligently recorded in pictorial
form his vast experiences in physical examination of the newborn infant. The Atlas of the
Newborn reflects his selection from the thousands of color slides in his collection, and it truly
represents the art of medicine as applied to neonatology. A number of unusual or rare
conditions are included in this atlas. I consider this fully justified because, if one has not seen
or heard of a condition, one cannot diagnose it.
This, the second of the five-volume series, includes three main topics: skeletal disorders, as
well as dwarfism; multiple congenital anomaly syndromes; and chromosomal disorders.
Genetic skeletal disorders include a large group of anomalies which may be associated with
dwarfism of various types, and may result in forcal structural or functional disorders. The
examples of these disorders shorn in this volume draws attention to their appearance in the
neonate, thus permitting early recognition of these anomalies.
Patients with multiple congenital anomaly syndromes and chromosomal disorders present a
real challenge to the clinician, and recognition is often particularly difficult in the neonatal
period. Although many descriptions of the various syndromes have been published, few
provide good graphic examples. It is of utmost importance that these multiple congenital
anomaly syndromes and chromosomal disorders be recognized as early as possible, so that
appropriate therapeutic options, prognosis and recurrence risks can be presented to the families.
The high quality photographs of various manifestations to these disorders will be of tremendous
assistance to the clinician in recognizing them in the neonatal period.
This volume will be extremely valuable, not only to obstetricians, neonatologists and nurses
involved in the perinatal period, but also to orthopaedists and clinical geneticists.
Abraham M. Rudolph, M.D.
xi
xii
Chapter 1
Although some congenital musculoskeletal dysplasias are among the most obvious disorders of the
neonate, they are also the most unusual. Congenital absence of all or part of a limb, deformities
of the feet or hands, and lesions of the neck and trunk are rarely a diagnostic problem. The most
common musculoskeletal dysplasias are among the most difficult to diagnose. Congenital hip dislocation may not be diagnosed even after repeated examination by experienced observers.
Musculoskeletal infections complicating sepsis produce few subtle signs and may be easily overlooked. This is further complicated by the general concept that early diagnosis and treatment
results in the greatest potential for normal growth and development of the infant. The examination of the musculoskeletal system should include inspection (e.g., looking for anomalies in contour position, and in spontaneous and reflex movement) and palpation (e.g., to determine if there
are abnormalities in passive motion) and should be systematic to ensure completeness.
Musculoskeletal Disorders and Congenital Deformities
1.1
1.2
Figure 1.2. Radiograph showing 13 ribs bilaterally in an otherwise normal infant.
Figure 1.1. Chest radiograph showing 11 ribs. The presence of 11 ribs is not an uncommon finding in normal
infants but occurs with greater frequency in infants with
Down syndrome. Note the cardiac enlargement and
enlarged thymus.
1.3
Figure 1.3. Lateral radiograph of the spine showing

the bone-in-bone appearance of the vertebral
bodies. This is a striking example of growth arrest
but otherwise is a nonspecific finding.
1.4
Figure 1.4. This figure shows the growth arrest

lines in the long bones of a term infant with severe
intrauterine growth retardation. Note the lack of
the distal femoral and proximal tibial ossification
centers, normally appearing at 36 and 38 weeks
respectively, also caused by growth retardation.
Hypothyroidism is also a consideration.
1.5
Figure 1.5. A radiograph of the lower

extremities in a term infant showing the
growth arrest lines. Note that in this
infant the distal femoral tibial and proximal tibial ossification centers are present.
1.6
Figure 1.6. A radiograph showing faulty segmentation

of vertebrae in an infant with rachischisis. This defect
may be seen in infants with the VATER syndrome and
other congenital anomalies.
Hemivertebrae may occur in the cervical or thoracic
spine, and less commonly in the lumbar spine. An
isolated hemivertebra may not be recognized clinically
but can cause abnormal posture (scoliosis). More commonly, hemivertebrae are multiple and may be associated with other skeletal abnormalities, as in the ribs.
1.7
Figure 1.7. Congenital scoliosis is rare in neonates but may

occur in association with structural anomalies of the vertebral
spine. In this infant, the congenital scoliosis was associated
with abnormal segmentation of vertebrae.
1.8
Figure 1.8. In this infant with caudal regression

syndrome, the mother was a class B diabetic. Oligohydramnios was present, but renal function was normal
in the infant. Note the arthrogryposis of the lower
extremities.
1.9
Figure 1.9. Lateral view of the same infant

showing the prominent end of the spine and
arthrogryposis of the lower extremities.
1.10
Figure 1.10. Frontal view of the same infant showing

the short lower extremities due to the marked arthrogryposis affecting the hip, knee, and ankle joints.
Infants with lumbosacral agenesis clinically adopt the
so-called Buddha position.
1.11
Figure 1.11. The same infant showing the arthrogryposis but note the dimple at the knee. Skin dimples
such as this are associated with pressure over a joint
and lack of movement.
1.12
Figure 1.12. Anteroposterior and

lateral radiographs demonstrating
the lumbosacral agenesis.
1.13
Figure 1.13. Radiograph of the

lower extremities of the same infant.
Note the abnormal development
of the pelvis due to the lumbosacral
agenesis, the thin, poorly developed
bones and lack of muscle mass. This
is due to lack of fetal movement and
resulting arthrogryposis.
1.14
Figure 1.14. An asymmetric form of the

caudal regression syndrome and hypoplastic
left lower extremity associated with hypoplasia of muscles and sciatic nerve on the left
side.
1.15
Figure 1.15. Anteroposterior and

lateral radiographs of the same
infant. Note the hemicaudal dysplasia. Also note the bilateral pulmonary hypoplasia.
1.16
1.17
Figure 1.17. Anteroposterior and lateral radiograph of an

infant with sacral agenesis, born to a diabetic mother. This
is one of the classic abnormalities reported in infants of diabetic mothers.
Figure 1.16. Close-up radiograph of

the pelvis and lower extremities in
the same infant. There are lumbar
and sacral hemivertebrae with left
scoliosis and vertebral fusion,
hypoplasia of left pelvic bones, dislocation of the left hip, and a hypoplastic left lower extremity.
Figure 1.18. Sirenomelia (mermaid fetus) in an infant of a

diabetic mother shows the severe postural deformities associated with the oligohydramnios which is always present in
infants with sirenomelia because of renal agenesis. These
infants typically lack an anus and have abnormal genitalia.
Note the Potter facies, low-set ears, epicanthal folds and
micrognathia associated with oligohydramnios and renal agenesis.
1.18
1.19
1.20
Figure 1.20. Note the anal atresia and postural deformities

of the hands and lower body in the same infant.
Figure 1.19. The same infant as in Fig.

1.18 placed in its position-of-comfort in
utero. Note that the fused lower
extremities give the typical appearance
of a mermaid.
1.21
Figure 1.21.
Anteroposterior
and lateral radiographs
of the same infant
show the marked
scoliosis, the abnormal
pelvis and the fused
femora.
1.22
1.23
Figure 1.23. This infant of a diabetic mother exhibits

sirenomelia with total lack of development of the genitalia and an imperforate anus. Associated with the renal
agenesis is oligohydramnios; this infant also demonstrates the typical Potter facies. Note the low-set ear, flat
nose and micrognathia.
1.24
Figure 1.22. Radiograph of the same
infant showing the fused femora, separate
tibiae and abnormal development of the
foot.
Figure 1.24. Sirenomelia in another infant of a diabetic mother; the

infant had severe oligohydramnios associated with renal agenesis.
There were no external genitalia and anal atresia was present, but note
that this infant had a tail present.
10
1.25
1.26
Figure 1.25. A close-up of the face of the same infant with

the typical Potter facies associated with oligohydramnios
and renal agenesis. Note the low-set abnormal ears, the flat
nose, and micrognathia. Epicanthal folds were also present.
Figure 1.26. Radiograph of the lower

extremities of the same infant with
sirenomelia shows the presence of two
separate femora with fusion of soft tissue,
two separate tibiae, and a single fibula
distally.
SKELETAL DEFICIENCIES
Skeletal deficiencies may be longitudinal defects which affect the limb on one side of the central axis or transverse
defects in which the limb is truncated abruptly and the limb may terminate at any level but distal involvement is
more common than proximal. Thus, radial aplasia with absence of the thumb and forefinger is characterized as a
preaxial longitudinal hemimelia of the upper limb. Similarly, involvement of the lower limb would produce tibial
aplasia. The affected limb will be curved toward the side of the deficiency and usually will be somewhat
foreshortened. In transverse defects the defect closely resembles a congenital amputation but usually there is some
degree of hypoplasia of the remaining proximal structures and the distal stump of the limb is not scarred but commonly small nubbins of tissue representing rudimentary digits may be present. Differentiation should be made
between transverse defects, which are primary limb reduction defects, and secondary limb reduction defects which
arise as a result of disruption.
1.27
Figure 1.27. Amelia
of all extremities
(tetramelia). Amelia
is absence of the
entire limb structure.
There was a history of
consanguinity. Apart
from the abnormalities of the extremities,
this infant was normal.
11
1.28
Figure 1.28. Close-up of the upper

extremities of the same infant.
1.29
Figure 1.29. Close-up of the

lower extremities of the same
infant.
1.30
Figure 1.30. An infant with
amelia of the upper extremities and ectromelia of the
lower extremities. Ectromelia
is the absence or incomplete
development of the long
bones of one or more of the
limbs. This may represent the
most extreme form of an
intercalary defect. In total
amelia, a form of ectromelia,
no limb elements whatsoever
are present.
12
1.31
Figure 1.31. Close-up of amelia of

upper extremities of the same
infant. This infant had abnormal
scapulae.
1.32
Figure 1.32. Close-up of ectromelia of

the lower extremities of the same
infant.
1.33
Figure 1.33. Chest radiograph of

the same infant. Note the abnormal scapulae and total absence of
the upper extremities. This radiograph stresses the importance of
looking at the total radiograph and
not the lungs alone when looking
at a chest radiograph.
13
1.34
Figure 1.34. In a radiograph of the lower extremities

of the same infant, note that there are no hip joints
and that the femora and fibulae are absent bilaterally.
INTERCALARY DEFECTS
Intercalary defects are those in which a more proximal portion of a limb fails to develop properly but distal structures are relatively intact. An extreme example is phocomelia, which involves partial or complete underdevelopment of the rhizomelic and mesomelic limb segments. The structures of the hands and feet may be reduced to a
single digit or may appear relatively normal but arise directly from the trunk like the flippers of a seal. In less severe
cases, portions of the proximal limb may remain.
1.35
Figure 1.35. This otherwise normal infant has an

isolated limb malformation of the left arm. This is
a transverse defect and is a primary limb reduction defect.
1.36
Figure 1.36. This infant represents an example of

unilateral non-thalidomide-induced phocomelia.
This malformation, which was common in thalidomide-exposed babies, is, otherwise, a very rare congenital malformation.
14
1.37
1.38
Figure 1.37. Close-up of the phocomelia in the same

infant as in Figure 1.36. This is a primary limb
reduction defect in that there was lack of the humerus,
radius, and ulna in the left upper extremity. In
phocomelia there may be absence of the femur, tibia,
and fibula in the lower extremities. There may be
bilateral involvement of the extremities.
Figure 1.38. Hemimelia of the right

upper extremity. This is another example
of a transverse defect in which a limb is
truncated abruptly. This is a primary limb
reduction defect.
1.39
Figure 1.39. Close-up of hemimelia in same infant.

Note the well-developed hand.
15
1.40
Figure 1.40. This infant has the thrombocytopeniaabsent radius (TAR) syndrome. There is absence of
the radius bilaterally. Note that the absence of the
radius of the right forearm has resulted in a club
hand. In the TAR syndrome the thumb is always
present.
Clinical signs of radial dysplasia include a shortening
of the forearm with radial displacement of the hand
(club hand). Varying degrees of dysplasia occur,
ranging from complete absence of the radius with
major malformations of the preaxial (radial) side of
the hand to normal development of the radius and
only minor anomalies of the thumb.
1.41
Figure 1.41. Another view of the same infant

with the TAR syndrome showing the left forearm
and hand. Again note the presence of the thumb.
Some dysmorphic syndromes, such as the TAR
syndrome, may show varying combinations of the
different types of limb defect. There is a preaxial
longitudinal defect (absence of the radius), but the
ulna is also short and the thumb and forefinger are
invariably present as expected with an intercalary
defect.
Radial dysplasia may be associated with pancytopenia as in Fanconis syndrome but may also be
associated with congenital heart disease and
abnormalities of other parts of the skeleton.
1.42
Figure 1.42. This infant has

Fanconis syndrome. Note the
congenital absence of the right
radius and right thumb. In
Fanconis syndrome the thumb
may occasionally be present. Note
the club hand with absence of the
radius and the thumb. This may
be unilateral or bilateral. In
Fanconis syndrome there is pancytopenia (anemia, neutropenia,
and thrombocytopenia) in addition to the hypoplastic or absent
thumbs and hypoplastic or absent
radius.
16
1.43
Figure 1.43. Another view of the

same infant as in Figure 1.42 showing the absence of the radius and
right thumb with the typical club
hand.
1.44
Figure 1.44. Another example of

Fanconis syndrome with congenital
absence of the right radius and thumb
and thrombocytopenia (platelet count of
30,000/mm3). Note the skin dimples at
the elbow which are related to the
infants position in utero.
1.45
Figure 1.45. Radiograph of the right

upper extremity of the same infant
showing the absence of the radius and
right thumb.
17
1.46
Figure 1.46. In this infant with Holt-Oram syndrome

(cardiac limb syndrome), note the congenital absence of
the left radius and thumb. The infant also had coarctation of the aorta. Holt-Oram syndrome may be associated with any congenital cardiac defect of which atrial
septal defect is the most common. A family history of
this condition is common.
1.47
Figure 1.47. Bilateral congenital absence of thumbs and radii in

an otherwise normal infant. The father of this infant had the same
congenital abnormalities. It is important to obtain a good family
history as this condition may be familial.
1.48
Figure 1.48. Congenital absence

of the right thumb was present in
this otherwise normal infant.
18
1.49
1.50
Figure 1.49. Another example of congenital

absence of the thumb in an otherwise normal
infant but note there is syndactyly between the
third and fourth fingers.
Figure 1.50. Acheiria of the right hand in an infant.

This occurs because of a failure of formation of the
hand as an isolated defect. The radius and ulna may be
foreshortened, there are no metacarpals or phalanges
seen radiologically, the thumb may be normally formed,
and rudimentary nails may be present. This is an example of a transverse defect in which there is hypoplasia
of all structures distal to a particular level on the limb.
Usually there is preservation of the more proximal
parts which may be normal or diminished in size.
1.51
Figure 1.51. This otherwise normal

infant had microcheiria of the left
hand. Note the normal right hand.
The normal hand is about twice as
long as it is wide. If metacarpal
hypoplasia is present it produces an
unusually short palm.
19
1.52
Figure 1.52. Note the

microcheiria of the right
hand in this infant with
Cornelia de Langes syndrome. This is not an
uncommon finding in
infants with this syndrome.
1.53
Figure 1.53.
Brachydactyly of the
right hand. This finding
may be isolated but is
seen in many syndromes.
1.54
Figure 1.54. Dorsal view of congenital brachydactyly of the index and middle fingers of left hand.
The father had the identical type of congenital
brachydactyly.
Asymmetric length of the fingers is usually the
result of hypoplasia of one or more phalanges.
Tapered fingers may indicate mild hypoplasia of the
middle and distal phalanges.
20
1.55
Figure 1.55. Ventral view of the right

hand of the same infant as in Figure 1.54.
1.56
Figure 1.56. Identical bilateral congenital brachydactyly in the infants father.
1.57
Figure 1.57. Camptodactyly (bent, contracted digits) most commonly affects the
fifth, fourth and third digits in decreasing
order of frequency. Presumably, it is the
consequence of relative shortness in the
length of the flexor tendons with respect
to growth of the hand. It may occur as an
isolated finding but is more commonly
associated with lack of movement in utero.
It is usually bilateral and symmetrical.
Each finger should be extended passively
to its full extent. Extension of less than
180 degrees at any joint signifies joint contracture (camptodactyly).
21
1.58
Figure 1.58. Camptodactyly of fingers in an

infant with arthrogryposis.
1.59
Figure 1.59. The hand of the same infant showing the

severity of the contractures and lack of palmar creases
due to the severe contractures. Note the depression in
the palm resulting from the contracted fingers.
1.60
Figure 1.60.
Supernumerary
digit in which the thin pedicle distinguishes it from true polydactyly.
In polydactyly the additional digit
may consist solely of soft tissue or
less commonly has skeletal elements.
22
1.61
Figure 1.61. Postaxial polydactyly is most

commonly seen in black infants where it
occurs as an autosomal dominant trait. The
polydactyly may be noted as a nubbin of scar
tissue, as a pedunculated mass attached by a
small pedicle, or as a fully developed digit.
Polydactyly may be preaxial, occurring at the
thumb or big toe, or postaxial, arising on the
ulnar aspect of the fifth finger or fibular
aspect of the fifth toe. Central polydactyly
does occur but is extremely rare. The vast
majority of infants with polydactyly have
postaxial polydactyly.
1.62
Figure 1.62. Another example of postaxial

polydactyly with a well-developed digit. These
digits may be fairly well formed with one or
more rudimentary phalanges. Duplication of
digits occurs when one or more extra digital rays
are formed during the embryonic period.
Polydactyly is an associated finding in many
syndromes such as trisomy 13 or 18, Ellis-van
Creveld syndrome, Carpenters syndrome, etc.
1.63
Figure 1.63. Bilateral

postaxial polydactyly.
Note that polydactyly
may be unilateral or
bilateral.
23
1.64
Figure 1.64. Postaxial polydactyly in an

infant at birth showing a necrotic, almost
amputated, extra digit due to interference
with circulation. This would explain why
some infants with polydactyly may only
have evidence of scarring on the lateral
side of the digit.
1.65
Figure 1.65. This infant has preaxial polydactyly of the

right hand. Preaxial polydactyly is less common but has
the same range of severity, with the accessory tissue usually arising from the midportion of the thumb or first toe.
1.66
Figure 1.66. In this infant with preaxial polydactyly, note that the extra digit is poorly developed.
24
1.67
Figure 1.67. Partial cutaneous syndactyly represents an incomplete separation of the fingers
and occurs most commonly between the third
and fourth fingers and between the second and
third toes. Syndactyly is the most frequent
form of hand anomaly. It is often bilateral and
may be combined with polydactyly, congenital
finger amputations, and syndromes. Syndactyly
refers to fusion of the soft tissues without synostosis (bony fusion). If there is synostosis, the
term symphalangism is used.
1.68
Figure 1.68. This infant with

Aperts syndrome (acrocephalosyndactyly) shows symmetric syndactyly of both hands. In Aperts
syndrome, total syndactyly may
involve the full length of the hands
or feet. They appear cupped and
mitten-like and may have a single
undulating band-shaped nail.
1.69
Figure 1.69. In Carpenters syndrome

(acrocephalopolysyndactyly), polysyndactyly is
a prominent feature. Note the webbing
between the digits; the extra digit can be noted
behind the fifth digit.
25
1.70
Figure 1.70. Polysyndactyly (seven digits)

with brachydactyly and hypoplastic nails in
an infant with Ellis-van Creveld syndrome.
1.71
Figure 1.71. There was a family history of broad

thumbs and toes in this otherwise normal infant
who exhibits an overgrowth anomaly of the
thumbs and big toes. Syndromes such as
Rubenstein-Taybi and Larsens syndrome should
be excluded in infants with broad thumbs and
toes.
1.72
Figure 1.72. A broad spatulate thumb

in an infant with Larsens syndrome.
26
1.73
Figure 1.73. A dorsal (left) and
ventral (right) view of digitalization of the right thumb in an
infant with imperforate anus and
microphthalmia. Karyotype was
normal.
If there are three phalanges comprising the thumb (triphalangeal
thumb), conditions such as
Fanconis pancytopenia syndrome and Holt-Oram syndrome
should be considered in the differential diagnosis. A triphalangeal thumb lies in the same
plane as the fingers.
1.74
Figure 1.74. A palmar view of digitalization of the

right thumb in another infant. Note the extra creases
in the thumb. This infant also had bifid big toes with
polydactyly.
1.75
Figure 1.75. The hitchhiker thumb is a proximally

placed thumb caused by hypoplasia of the first
metacarpal. The thumb is retroflexed with hypoplasia
of the thenar eminence. This type of thumb is typical
in diastrophic dwarfism.
27
1.76
Figure 1.76. Pouce flottant (floating thumb) of the

right hand. In this condition there is an absent or
hypoplastic first metacarpal.
1.77
Figure 1.77. Another example of pouce

flottant. There is an absence or maldevelopment of the first metacarpal with phalanges.
1.78
Figure 1.78. An early insult to the limb bud in the 5th to 6th embryologic week may result in a duplication of parts, especially of the hands
and feet, such as this bifid thumb.
28
1.79
1.80
Figure 1.79. Palmar adduction (cortical thumb) in

a normal infant. The thumbs are freely mobile but are
held adducted and flexed across the palms with the
fingers tightly clutched over them. Cortical thumbs
are a manifestation of hypertonicity when they are
present beyond the first 3 to 4 months. Constant palmar adduction or clasped thumb after this age
would alert one to the possibility of central nervous
system pathology. Clasped thumbs are held in a
flexed and adducted position across the palm and cannot be abducted or extended.
Figure 1.80. In infants with neonatal Marfan

syndrome, the thumb may extend beyond the
fifth finger when the infant fists its hand. This
infant with Marfan syndrome had an
upper/lower segment ratio of 1.52. The normal
upper/lower segment ratio in the neonate is 1.69
to 1.7. It is much reduced in Marfan syndrome
and increased in short-limbed dwarfism and
hypothyroidism. Note that the fingers are long,
tubular, and relatively slender.
1.81
Figure 1.81. The typical appearance of the fingers in

trisomy 18. Note the index finger overlapping the third
finger and the fifth finger overlapping the fourth finger.
Also note the hypoplastic nails.
29
1.83
1.82
Figure 1.82. Bilateral trigger fingers in a neonate. Trigger

digits may involve the thumbs or the fingers. The fingers
may present with clicking, flexion contractures of the
proximal interphalangeal joint, or both. They are much
less commonly involved than the thumbs which present
with a palpable nodule at the proximal flexor tendon pulley at the level of the metacarpophalangeal joint. Trigger
thumbs must be distinguished from a congenital clasped
thumb in which the deformity usually affects the
metacarpophalangeal joint.
Figure 1.83. Macrodactyly of the right

middle finger occurring from a localized
overgrowth of a digit. This occurs most
frequently as a random isolated enlargement of a finger or toe, or it may be associated with vascular or lymphatic
malformations or may occur in neurofibromatosis.
1.84
Figure 1.84. Ventral view of the macrodactyly of the right

middle finger in the same infant. This was an isolated finding
in this infant.
30
1.85
1.86
Figure 1.85. Radiograph of the hand of the infant

shown in Figure 1.84 showing the macrodactyly of
the right middle finger.
1.87
Figure 1.86. Macrosyndactyly of the third and

fourth fingers of the left hand. This infant had
a massive diffuse lymphangioma involving the
left side of the neck, the chest, and the upper
extremity.
Figure 1.87. In these infants with lobster-claw deformity (ectrodactyly, or split

hand/split foot deformation), the typical
V-shaped cleft is noted on the left. In this
classic form, all four limbs are involved.
The feet are usually more severely affected
than the hands. This type is strongly familial and is usually inherited as an autosomal
dominant. The atypical type of lobsterclaw deformity is seen on the right. Note
that the cleft is wider (U-shaped defect)
with only a thumb and small finger
remaining. This atypical type has no
genetic basis and usually involves a single
upper extremity but always spares the feet.
31
1.88
Figure 1.88. Typical V-shaped

lobster-claw deformity of the
hands. The lobster-claw deformity may be associated with
other malformations, often as a
genetically determined syndrome. In the hand, the typical
deformity consists of the
absence of the third digital ray,
with a deep triangular cleft
extending to the level of the
carpal bones. Fingers bordering
the cleft may show clinodactyly,
camptodactyly, or syndactyly
and are sometimes hypoplastic
or completely missing.
1.89
Figure 1.89. The typical V-shaped

lobster-claw deformity of the feet in
the same infant.
1.90
Figure 1.90. The atypical type of lobster-claw deformity (U-shaped defect)

which only involved the right hand of
this infant. Note the wider cleft. This is
a sporadic defect.
32
1.91
Figure 1.91. A primary

reduction malformation of the
fingers of the right hand.
1.92
Figure 1.92. Congenital hypertrophy of the left

upper extremity of an infant at the age of five
months. This is also known as segmental hypertrophy or local acromegaly. This is often not
obvious at birth but becomes more apparent
with increasing age. Limb asymmetry can be
caused by vascular anomalies that produce localized overcirculation, but more commonly is
found as an isolated phenomenon. When such
asymmetry affects one entire side of the body,
the term hemihypertrophy is used.
Differential diagnosis of hemihypertrophy
includes neurofibromatosis, Wilms tumor,
Beckwith-Wiedemann syndrome, KlippelTrnaunay syndrome, and Russell-Silver dwarf,
but most commonly this is an idiopathic finding.
1.93
Figure 1.93. The same infant demonstrating the congenital hypertrophy of the left
upper extremity.
33
1.94
Figure 1.94. A frontal view of a neonate

with congenital dislocation of the hip.
Note the asymmetry of the skin folds. In
congenital dislocation of the hip, asymmetry is not commonly noted in the
neonatal period. Congenital dislocation is
very much more common in female
infants.
1.95
Figure 1.95. A dorsal view of the same

infant shows the asymmetric gluteal folds
and other skin folds. In the neonatal
period the asymmetry of the gluteal folds
and other skin folds is usually not as
apparent as it is in this infant.
1.96
Figure 1.96. Congenital hip dislocation

and bilateral club feet in an infant with
Polands anomaly. Note the asymmetry of
the creases. Congenital hip dislocation
is commonly associated with the presence
of other congenital postural deformities.
Also note the bilateral talipes equinovarus.
34
1.97
Figure 1.97. Radiograph of congenital dislocation of

the hip.
1.98
Figure 1.98. Proximal focal femoral deficiency of

the right side in an otherwise normal infant. This
is a congenital defect of unknown cause, usually
consisting of a shortening and contracture of the
proximal portion of the femur with or without
involvement of the pelvic bones. The severity of
the condition depends on the presence or absence
of the femoral head and acetabulum. Treatment is
directed towards stabilizing the hip. Correction of
the leg length discrepancy may require an amputation above the knee and fitting with a
prosthesis.
1.99
Figure 1.99. Radiograph of the same infant showing

the proximal focal femoral deficiency.
35
1.100
Figure 1.100. Hypotrophic left lower

extremity. This may occur in the caudal
regression syndrome or may be due to
interference with the vascular supply to
the lower extremity.
1.101
Figure 1.101. Hypoplastic right lower extremity with four toes on the right foot.
1.102
Figure 1.102. The same infant

showing the hypoplasia of the right
lower extremity and the presence
of four toes on the right foot. Note
that the hypoplasia can be subtle.
36
1.103
Figure 1.103. Congenital absence of patellae

in a normal infant. This finding is also noted
in trisomy 8 and Nievergelt syndrome.
1.104
Figure 1.104. In this infant with the

tibia reduction-polydactyly syndrome
there is an absence of the tibiae bilaterally with septadactyly on the right foot
and octadactyly on the left foot.
Absence or hypoplasia of the tibia was
seen in the thalidomide syndrome. It is
otherwise rare, whereas absence of the
fibula is more common. It is more common in males, more often unilateral
and more common on the right side.
1.105
Figure 1.105. In the tibia reduction-polydactyly

syndrome, the fibula may be shortened but is otherwise normal and the patella may be absent.
Associated malformations are common and strikingly heterogeneous. Note the skin dimple at the
knee joint and the skin dimple over the leg, and the
bilateral pes equinovarus associated with the
absence of the tibiae. The plantar surface of the foot
is turned medially.
Skin dimples at a joint are seen normally in infants
but dimples over a long bone are always associated
with pathology.
37
1.106
Figure 1.106. Tibia reduction-polydactyly syndrome in the same infant

showing the septadactyly of the right
foot, octadactyly of the left foot and
bilateral pes equinovarus because of
absence of the tibia.
1.107
Figure 1.107. Octadactyly and pes equinovarus of the left foot in the same infant. Note
the position of the big toe. The extra digits
are therefore preaxial.
1.108
Figure 1.108. The same infant showing

the septadactyly and pes equinovarus of the
right foot. Note the position of the big toe.
The extra digits are also preaxial.
38
1.109
Figure 1.109. Talipes equinovarus (congenital clubfoot).

There has been much discussion as to whether this is a true
congenital malformation or whether it occurs as a result of a
postural deformity (intrauterine molding). The foot cannot
be dorsiflexed to the normal position and the heel is fixed in
the varus deformity.
1.110
Figure 1.110. Another view of the foot of the same

infant.
1.111
Figure 1.111. Talipes equinovarus

(congenital clubfoot) in an infant
with Polands anomaly. Talipes
equinovarus is frequently associated
with congenital hip dysplasia,
neural tube defects, and neuromuscular conditions.
39
1.112
Figure 1.112. The same infant showing the position of the feet in utero, suggesting that the defect
occurred as a result of a congenital postural deformity. In infants with clubfoot occurring as a congenital malformation, skin dimples are not present
at the ankles, whereas in infants with clubfoot associated with postural deformations, dimples may be
present over the joint as is noted in this infant.
1.113
Figure 1.113. Bilateral clubfoot

in an infant with myotonic dystrophy. The lack of fetal movement in utero caused this
deformity. Clubfoot is commonly
seen in infants with neuromuscular diseases such as neural tube
defects and amyotonia congenita
(Oppenheims disease).
1.114
Figure 1.114. Rocker-bottom

feet are noted in this infant with
trisomy 18. Posterior calcaneal
extension is present and the convex appearance of the sole of the
foot resembles a rocking chair.
40
1.115
Figure 1.115. This infant with a
neural tube defect presents a classic
appearance of rocker-bottom feet
with marked posterior calcaneal
extension. Rocker-bottom feet are
commonly seen in infants with
neural tube defects.
1.116
Figure 1.116. An example of ectrodactyly of

both feet. Note that there are three toes on the
right foot and three toes on the left foot with
fusion of the first and second toes. The sole
creases are poorly developed.
1.117
Figure 1.117. Microsyndactyly of the toes in an

otherwise normal infant.
41
1.118
Figure 1.118. Polydactyly of toes of the right foot.
1.119
Figure 1.119. Polydactyly of the toes of both feet.
1.120
Figure 1.120. Bilateral polydactyly

of toes in identical twins.
42
1.121
Figure 1.121. Central polydactyly and syndactyly of the first

and second toes of the right foot
in an infant of a diabetic mother.
Otherwise, the infant was normal.
1.122
Figure 1.122. Central polydactyly of the

left foot with syndactyly of the first and
second toes of both feet. This infant, who
clinically was not typical of a trisomy 18,
had the radiographic findings of a gracile
appearance of the ribs and an antimongoloid pelvis. The karyotype was a typical
trisomy 18.
1.123
Figure 1.123. Syndactyly in an otherwise normal

infant is of no medical or cosmetic significance and
involves the toes more frequently than the fingers.
Syndactyly refers to fusion of the soft tissues without
synostosis. It is also seen in many syndromes such as
Smith-Lemli-Opitz, Aperts, and trisomy 18.
43
1.124
Figure 1.124. Syndactyly of the

second and third toes bilaterally
with markedly hypoplastic nails
in an infant who also had a floating thumb of the right hand.
Chromosomes were normal.
1.125
Figure 1.125. Mild syndactyly of the second and

third toes in an infant with
the other typical findings of
trisomy 18, namely the short
big toes and hypoplastic nails.
1.126
Figure 1.126. Symmetrical syndactyly of the toes

in an infant with Aperts syndrome (acrocephalosyndactyly).
In symphalangism, no joint movement whatever is
possible at the sites of the affected interphalangeal
joints because the bony fusion has taken place. The
absence of flexion creases is an excellent clue to
the presence of this anomaly.
44
1.127

symmetrical syndactyly of the toes in
Aperts syndrome.
1.128
Figure 1.128. Bilateral symmetrical

polysyndactyly giving the appearance of
webbing between the toes in an
infantwith Carpenters syndrome
(acrocephalopolysyndactyly).
1.129
Figure 1.129. Broad toes in a normal infant. This may

be familial. Broad toes are seen in certain syndromes
such as Rubenstein-Taybi syndrome and Larsens
syndrome.
45
1.130
Figure 1.130. Preaxial polydactyly with bifid big toes in an

otherwise normal infant.
1.131
Figure 1.131. Bifid big toes with

polydactyly in an infant who also
has digitalization of the thumbs.
1.132
Figure 1.132. Duplication of the big toe. Radiograph

showed two separate digits. This may result from an
early insult to the limb bud in the 5th to 6th week of
gestation.
46
1.133
Figure 1.133. Congenital curly toes

(overlapping toes). These are very common and are often familial. The abnormality becomes less obvious as the infant
grows.
1.134
Figure 1.134. Hypertrophy of the third toe

of the right foot. This may occur as an isolated finding or may be seen in neurofibromatosis or in infants with vascular
malformation of a digit.
1.135
Figure 1.135. Dorsal view of macrosyndactyly of the second and third toes of
the right foot.
47
1.136
Figure 1.136. Plantar view of the toes of

the same infant.
1.137
Figure 1.137. Single palmar crease and clinodactyly

in the left hand of an otherwise normal infant. Single
palmar creases are noted bilaterally in 1 to 2% of normal infants and unilaterally in 6% of normal infants. It
is present in about 50% of patients with Down
syndrome. It is twice as common in males as in females
and it is associated with many syndromes. Palm creases
form in response to flexion at the metacarpophalangeal
joints and opposition of the thumb. Three deep creases
are usually seen but there are many normal variants.
1.138
Figure 1.138. Single palmar crease and clinodactyly

of the right hand. Clinodactyly is the incurving of the
finger to one side, usually toward the midline, due to
an absent or hypoplastic middle phalanx. Involvement
of the fifth finger is most common. With an absent
phalanx only two creases are present as in this infant.
With a hypoplastic middle phalanx, the number of
creases is normal but creases are closer together and
will slope toward each other rather than being parallel.
It is noted in otherwise normal infants but also occurs
in many syndromes.
48
1.139
Figure 1.139. An extra crease on the fifth finger.
1.140
Figure 1.140. Increased number of finger

creases in an otherwise normal infant.
Increased finger creases may be seen in normal
infants and in infants that have increased laxity
of the joints such as in Larsens syndrome and
Ehlers-Danlos syndrome. They often signify
increased fetal activity at 11 to 12 weeks of fetal
life when the creases normally become evident.
Hence, gross alteration in crease patterning is
usually indicative of an abnormality in form
and/or function of the hand prior to the 11th
fetal week. If there is a lack of fetal movement
before this period of gestation, the number of
finger creases is decreased.
1.141
Figure 1.141. The father of the same infant also had
increased finger creases. He was otherwise normal and
had no problems. The thenar crease normally circles
the base of the thenar eminence, extending distally to
between the thumb and index fingers. The distal palmar crease traverses the palm beneath the last three
fingers, beginning at the ulnar edge of the palm and
curving distally to exit between the middle and index
fingers. The proximal palmar crease may be less well
defined. It begins over the hypothenar eminence and
normally extends parallel to the distal crease to exit
near or fuse with the distal portion of the thenar
crease.
49
1.142
Figure 1.142. Increased and abnormal finger creases

due to laxity of joints in an infant with Larsens
syndrome. Note the single palmar crease.
1.143
Figure 1.143. This infant has decreased creases in

both the fingers and the palm due to lack of fetal
movement. Absence of normal flexion creases invariably signifies inadequate movement of the underlying
joints. Changes in the palmar crease include the single
palmar crease (simian crease) and the bridged palmar
crease (Sydney line) in which there is an extension of
the proximal transverse crease which reaches the ulnar
border of the hand and the medial edge of the palm
between the index and middle fingers.
1.144
Figure 1.144. Lack of fetal movement is seen in acute infantile

spinal atrophy (Werdnig-Hoffmann
disease). Lack of normal development of the finger creases is due to
lack of fetal movement early in gestation. On the left, note the position of comfort of the fingers with
deep depression in the palm shown
on the right.
50
1.145
Figure 1.145. Lack of creases of the palm and

fingers in an infant with amyotonia congenita.
1.146
Figure 1.146. Hypoplastic (absent or sparse) dermal

ridges and absence of flexion creases on the fingers and
palms are seen in this infant with the fetal akinesia
sequence (Pena-Shokeir phenotype).
1.147
Figure 1.147. This infant with arthrogryposis multiplex congenita shows the lack of palmar and finger
creases due to lack of fetal movement before the 10th
to 12th weeks of gestation.
51
1.148
Figure 1.148. Arthrogryposis multiplex

congenita in this infant shows the contractures which occur in this condition. They
are usually symmetrical and involve all four
extremities but may involve only the upper
or lower limbs. There is muscular hypotonia, generalized thickening of the skin with
dimpling, and hip subluxation; and bilateral talipes equinovarus, opisthotonos and
scoliosis of the spine are common.
1.149
Figure 1.149. Contracture of the hand in an

infant with arthrogryposis multiplex congenita.
1.150
Figure 1.150. Contracture of the lower extremity in

the same infant. These infants commonly have bilateral talipes equinovarus.
52
1.151
Figure 1.151. Dimples at the knee in

an infant with arthrogryposis multiplex congenita. Normally dimples at a
joint are of no significance, but they
may occur with contractures and lack
of movement as in this infant.
Chapter 2
Dwarfism
Dwarfs frequently present in the newborn period, but sometimes the diagnosis is not obvious until
there is additional disproportionate growth. There are many different kinds of dwarfs and the
nomenclature is descriptive of the portions of the long bones affected. Rhizomelic shortening
refers to the proximal portions of the long bones (e.g., upper arms and thighs). Mesomelic shortening refers to the central segments of the long bones (e.g., forearms and legs). Acromelic shortening refers to the hands and feet. All three segments may be affected simultaneously but
unequally, as in achondroplasia in which the most severe effect is in the proximal segment. All
four limbs may be involved as in Conradi-Hnermann syndrome. Only the femur may be involved
as in femoral hypoplasia syndrome or only the forearms may be affected as in Robinows syndrome.
A general knowledge of the various kinds of dwarfs is important in their recognition. Frequently,
consultation with a radiologist, geneticist, pediatrician or neonatologist experienced in recognizing dwarfs may be necessary.
53
54
2.1
2.2
Figure 2.1. Achondroplasia (rhizomelic

dwarfism). This is dominantly inherited but many
cases occur by spontaneous mutation. There are
short proximal parts of the arms and legs (rhizomelic micromelia), marked lordosis, caudal narrowing of the spine, and spade-like hands (short
trident hand with short metacarpals and phalanges). Note the normally sized but laterally
compressed trunk.
Figure 2.2. The head of the same infant showing

the large square head with bossing of the forehead
and a depressed nasal bridge. Infants with achondroplasia may have megalencephaly (macroencephaly).
In hypochondroplasia syndrome there is a near normal craniofacies but the limbs are short and there is
caudal narrowing of the spine.
2.3
Figure 2.3. A radiograph of the upper extremities

showing the short proximal parts. Note that the typical changes in the long bones are not yet present.
Dwarfism
55
2.4
2.5
Figure 2.5. Radiograph of skull on the left showing the

large size, shortened base and shallow sella turcica. This
is characteristic in achondroplasia. On the right is a radiograph of the left hand showing the broad and short
bones.
Figure 2.4. A radiograph of the lower extremities showing the short proximal parts. Note
that the bones are broad and short.
Figure 2.6. A radiograph of the lower extremities in

an infant with achondroplasia. Note the broad short
bones with irregular and flared epiphyseal lines. Note
the typical telephone handle appearance of the
femur.
2.6
56
2.7
Figure 2.7. Another example of achondroplasia in a term infant. The infants

length was 45 cm with an upper/lower segment ratio of 2.3. The upper/lower segment ratio for a term infant is 1.7. The shortness of length and the increase in
upper/lower segment ratio is due to the short lower extremities. The head circumference of 36 cm is above the 90th percentile.
2.8
Figure 2.8. A radiograph of an infant

with achondroplasia. Note the rhizomelic
upper extremities and the narrow ribs
which result in compression of the chest.
2.9
Figure 2.9. Camptomelic dysplasia. Note the short limbs and

marked bowing of the tibiae in
this autosomal recessive type of
dwarfism. The infants have a flat
facies with a low nasal bridge and
micrognathia. The majority of
infants die in the neonatal period
from respiratory insufficiency.
Dwarfism
57
2.10
Figure 2.10. Note the bowed tibiae

and the skin dimple over the midportion of the leg in the same infant
with camptomelic dysplasia. These
occur as a result of absent or
hypoplastic fibulae in these infants.
2.11
Figure 2.11. The same infant showing the

left hand and the right leg. Note the short
stubby fingers,
single palmar crease and
clinodactyly of the fifth finger and the anterior bowing of the tibia with skin dimpling
over the convex area. Dimples at a joint
are common and usually normal but the
presence of skin dimples between joints,
such as in this infant, always signifies underlying pathology.
2.12
Figure 2.12. Note the marked shortening of

the proximal portion of the right upper
extremity compared with the distal portion in
an infant with camptomelic dysplasia.
58
2.13
2.14
Figure 2.13. A radiograph of the chest of this

infant shows the small thoracic cage with thin,
short clavicles and hypoplastic scapulae. This is a
typical finding in camptomelic dysplasia.
Figure 2.14. Radiograph of the upper extremities

of the same infant with camptomelic dysplasia
showing the hypoplastic scapulae, bowing of long
bones, radioulnar dislocation and short proximal
phalanges.
2.15

extremities of the same infant with camptomelic dysplasia. Note the marked bowing
of the long bones with cortical thickening
of the concave border and thinning of the
convex border. Also note the absent left
fibula and hypoplastic right fibula.
Dwarfism
59
2.16
Figure 2.16. Radiograph of the upper and lower

extremities showing the stippling of the epiphyses
of an infant with chondrodystrophia calcificans
congenita. This may occur as a rhizomelic form
with a flat facies, low nasal bridge and cataracts,
short humeri and femora, coronal clefts in the
vertebrae, and punctate epiphyseal mineralization.
It also occurs in an autosomal dominant form
(Conradi-Hnermann syndrome) in which there is
asymmetric limb shortness and early punctate
epiphyseal mineralization. In infants with stippling
of the epiphyses, consideration should also be given
to the diagnoses of Zellweger syndrome and the
fetal warfarin syndrome.
2.17
Figure 2.17. Radiograph of the neck in the same

infant showing the characteristic stippling at the
hyoid bone and the spine.
Figure 2.18. In this infant with cleidocranial dysplasia, an autosomal dominant condition, the shoulders clinically appear normal.
They may present with hanging narrow shoulders, pectus excavatum, and abnormal shoulder movement due to the bilateral
absence of the clavicles. In any infant with wide open sutures and
fontanelles or wormian bones on clinical examination of the skull,
one should always check the clavicles to exclude the diagnosis of
cleidocranial dysostosis.
2.18
60
2.19
2.20
Figure 2.19. The same infant as in Figure 2.18

with cleidocranial dysplasia showing the
approximation of the shoulders in front of the
chest due to the absence of the clavicles.
These infants present with other findings.
Aplasia or defective development of the clavicles and laxity of the ligaments allow the forward folding of the shoulders. Defective
mineralization of other parts of the skeleton
may occur.
Figure 2.20. Radiograph of the chest shows the

absence of the clavicles.
2.21
Figure 2.21. This figure shows the same infant with frontal
and parietal bossing. The face appears small with a broad nose
and depressed nasal bridge, and there is a groove over the
metopic suture. The infant also had a large, open fontanelle.
Dwarfism
61
2.22
Figure 2.22. The same infant showing the

brachycephalic skull and frontal and parietal
bossing.
2.23
Figure 2.23. The radiograph of the skull in the same

infant. Note the wide open fontanelles due to their
delayed closure. There is also marked widening of the
cranial sutures.
2.24
Figure 2.24. A lateral radiograph of the skull in an

infant with cleidocranial dysostosis showing the
marked frontal and parietal bossing and brachycephaly.
62
2.25
Figure 2.25. This infant with cleidocranial dysostosis has

hypoplastic clavicles and had the typical findings in the
skull. In cleidocranial dysostosis there may be partial to
complete dysplasia of the clavicles.
2.26
Figure 2.26. The radiograph of the pelvis and long bones of the same
infant shows the poorly developed pelvis with small ilia and marked
separation of the symphysis pubis.
2.27
Figure 2.27. Radiograph of the pelvis of the

father of the same infant at the age of 25
years. Note the retarded ossification of the
corpora and inferior rami of the pubic bones
and the retarded ossification of the symphysis
pubis (i.e., symphysis pubis gap is not fused).
Dwarfism
63
2.28
Figure 2.28. Radiograph of the fathers skull showing

the poor ossification and multiple wormian bones.
2.29
Figure 2.29. This infant with diastrophic dysplasia

presents the marked narrowing of the chest, the short
limbs and the typical hitchhiker thumbs (hyperextensible and hyperabductable). In this autosomal
recessive condition there is disproportionate dwarfism
(abnormal shortness of the proximal parts of the
limbs), club feet, and widening between the first and
second toes (sandal sign). The big toes are abducted.
2.30
Figure 2.30. This figure is a close-up
of the typical hitchhiker thumbs in
the same infant with diastrophic dysplasia. The hitchhiker thumb is
caused by hypoplasia of the first
metacarpal, and the long axis of the
digit is oriented almost horizontally in
relation to the palm. The thumb is
retroflexed with hypoplasia of the
thenar musculature. Radiographic
examination of the long bones in
these infants demonstrates spreading
of the metaphyses and delayed closure
and deformation of the epiphyses.
64
2.31
2.32
Figure 2.32. A lateral view of the same infant.
Figure 2.31. This infant has a rare form of

short-limbed dwarfism. The diagnosis is
anisospondylic camptomicromelic dwarfism
(dyssegmental dwarfism). This condition is
autosomal recessive, there is disproportionate short stature, flat facies, flat nose and
micrognathia. Cleft palate is common.
There is a short neck and narrow thorax
with short bent extremities and decreased
joint mobility. A radiograph of the spine is
diagnostic in that there are short vertebral
bodies with segmentation defects.
2.33
Figure 2.33. A close-up view of the same infant showing the flat
facies with a flat nose, micrognathia and a short neck.
Dwarfism
65
2.34
2.35
Figure 2.35. The lower extremities of the same infant

showing the marked camptomicromelia.
Figure 2.34. The right upper extremity of

the same infant showing the camptomicromelia and the small thorax.
2.36
Figure 2.36. Radiograph of the chest and spine of the same infant
with dyssegmental dwarfism. Note the anisospondyly (segmentation
defects of the vertebral bodies), abnormalities of the ribs, hypoplastic scapulae, and ilia with irregular borders.
66
2.37
Figure 2.37. Radiograph of the

infant as in Figure 2.31 showing
the long bones which are
markedly shortened with midshaft angulation (camptomelia)
together with marked metaphyseal flaring and cupping.
2.38
Figure 2.38. Radiograph of the lower extremities

of the same infant. The long bones are markedly
shortened with midshaft angulation (camptomelia) together with marked metaphyseal flaring and cupping.
2.39
Figure 2.39. This infant with chondroectodermal dysplasia (Ellis-van

Creveld syndrome) presents with the typical short distal extremities, short
ribs, polydactyly, nail hypoplasia, neonatal teeth, and congenital heart disease. Although atrial septal defect is most common, this infant had a
hypoplastic left heart. Note that the extremities are plump and markedly and
progressively shortened distally, that is, from the trunk to
the phalanges. Birthweight was 2880 g, length was 44.5 cm (<10th percentile), and fronto-occipital circumference (FOC) was 34.5 cm (50th percentile).
Dwarfism
67
2.40
Figure 2.40. A close-up of the left hand of the

infant shown in Figure 2.39 showing polydactyly
(seven digits) and brachydactyly.
2.41
Figure 2.41. Note the typical lower

extremities in the same infant. The
limbs which are short and plump become
markedly and progressively shortened
distally, that is, from the trunk to the
phalanges. Also note the very small
penis (genital anomalies are not uncommon in this condition).
2.42
Figure 2.42. Preaxial polydactyly and brachydactyly in another

infant with Ellis-van Creveld syndrome. Note the markedly
hypoplastic nails.
68
2.43
Figure 2.43. Postaxial polydactyly of the

toes in an infant with Ellis-van Creveld syndrome. In this syndrome, polydactyly is noted
in the fingers in 100% of cases but is present
in the toes in only 10 to 20%.
2.44
Figure 2.44. In this infant

with Ellis-van Creveld syndrome, note on the left the
short upper lip with midline defect due to fusion of
the upper lip to the maxillary-gingival margin. On
the right, note that the
fusion of the upper lip to
the maxillary-gingival margin results in a lack of the
mucobuccal fold or sulcus
which normally is present
anteriorly.
2.45

Ellis-van Creveld syndrome
demonstrates on the left the
fusion of the labiogingival margins so there is no sulcus to the
upper lip. Also note the
hypoplastic neonatal teeth in
the upper jaw. On the right,
note the hypoplastic neonatal
teeth in the lower jaw.
Neonatal teeth are present in
30% of infants with Ellis-van
Creveld syndrome.
Dwarfism
69
2.46
Figure 2.46. A radiograph of the chest of an infant with Ellisvan Creveld syndrome. Note the long narrow chest and short
ribs with cardiac enlargement. Congenital heart disease is present in 50 to 60% of cases of Ellis-van Creveld syndrome. This
infant had a large atrial septal defect, the most common lesion
seen in Ellis-van Creveld syndrome.
2.47
Figure 2.47. Radiograph showing the mesomelic shortening

of the limbs and polydactyly.
The proximal end of the ulna
and distal end of the radius are
swollen and bulbous giving the
appearance of two parallel
drumsticks that point in opposite directions.
2.48
Figure 2.48. Radiograph of the hand in an infant with Ellis-van Creveld

syndrome. Note that the phalanges are short but that the proximal phalanges are relatively long compared to the others. Adults, therefore, cannot make a tight fist. Also note the fusion of the fifth and sixth
metacarpals.
70
2.49
2.50
Figure 2.50. Close-up view of the arm of the same infant

showing the marked bowing at the forearm.
Figure 2.49. Short-limbed dwarfism in an

infant with congenital hypophosphatasia.
There is failure of calcification of all bones
resulting in marked bowing. This autosomal recessive condition is associated with a
severe deficiency of tissue and serum alkaline phosphatase. It presents with bowed
lower extremities with overlying cutaneous
dimpling and short ribs resulting in a small
thoracic cage. Death usually occurs from
respiratory insufficiency.
2.51
Figure 2.51. The lower right leg of the same

infant showing the marked bowing with a large
skin dimple over the middle of the leg. This is
a classic physical sign in infants with congenital hypophosphatasia.
Dwarfism
71
2.52
Figure 2.52. Radiograph of the upper extremity showing the osteoporosis and metaphyseal flaring with
marked bowing of the radius and ulna bilaterally.
2.53

extremities of the same infant showing the
gross osteoporosis and metaphyseal flaring
with marked bowing of the femora, tibiae
and fibulae.
2.54
Figure 2.54. Radiograph of the skull of an infant with

congenital hypophosphatasia. Note the marked lack
of mineralization with deformity of the skull.
Characteristic is the large size of the skull, shortened
base, and a shallow sella turcica. There is late closure
of the fontanelles. This appearance is comparable to
the skull seen in infants with osteogenesis imperfecta.
72
2.55
2.56
Figure 2.55. Radiograph of the skull of another infant with

congenital hypophosphatasia. Note that some mineralization is
present but that it is very poor.
2.57
Figure 2.56. In this infant with

asphyxiating thoracic dystrophy
(Jeunes syndrome) note the abnormally long and narrow thorax with
high clavicles and a large abdomen.
The narrow thorax due to short ribs
results in limited chest wall movement. As a result of this, there is a lack
of space in the subcostal area and the
liver lies completely in the abdomen.
These infants may have hypoplastic
lungs and renal pathology in the form
of cystic tubular hypoplasia and/or
glomerular sclerosis.
Figure 2.57. Another infant with asphyxiating thoracic dystrophy. Again note the small thorax due to
short ribs, the high clavicles and what appears to be
abdominal distention due to the fact that the whole
liver is in the abdomen. These infants give the appearance of having widely spaced nipples. There is shortening of the arms and legs as well as an inability to
extend the forearm at the elbow joint. The condition
is autosomal recessive.
Dwarfism
73
2.58
Figure 2.58. Anteroposterior and lateral radiograph of an

infant with asphyxiating thoracic dystrophy. Note the short
ribs which are horizontally placed, giving the appearance of a
long narrow chest. The heart is normal in size but appears to
be large because of the narrow thorax. Note the high clavicles,
which are of normal size.
2.59
Figure 2.59. Radiograph of an infant

with asphyxiating thoracic dystrophy.
Note the very short ribs with a long narrow chest and the high clavicles.
2.60
Figure 2.60. Radiograph

of the pelvis of an infant
with asphyxiating thoracic
dystrophy. Note the hypoplastic iliac wings and
flattened acetabula with
spike-like projections at
the lower margins of the
sciatic notches.
74
2.61
2.62
Figure 2.61. Radiograph of an infant with metatropic dysplasia. This is another form of dwarfism associated with a narrow thorax, thoracic kyphoscoliosis and metaphyseal flaring
(giving the typical dumb-bell appearance). The proportion
of the length of the trunk to the extremities reverses during
childhood. At first the trunk is too long and the extremities
too short. With increasing kyphoscoliosis the trunk becomes
short.

extremities of the same infant showing
the short limbs with typical dumb-bell
appearance of the femora, which occurs
as a result of huge epiphyses. There is
hypoplasia of the basilar pelvis with horizontal acetabula, a short, deep sacroiliac
notch, and squared iliac wings.
2.63
Figure 2.63. Radiograph of skull in an infant with

metatropic dysplasia. Note the poor mineralization and
the very prominent occiput.
Dwarfism
75
2.64
Figure 2.64. Type II osteogenesis

imperfecta which is perinatally lethal.
Death occurs before or shortly after
birth. The lethal form is autosomally
dominant but they are mostly new
mutations. Rarely it is autosomally
recessive. Note the markedly abnormal skull (which is soft and impressionable) and short limbs due to
osteogenesis imperfecta. The damage
to the neck and abdomen was present
at birth.
2.65
Figure 2.65. Another infant with severe osteogenesis

imperfecta with marked shortening of long bones due to
multiple fractures in utero as seen in the upper extremities and a grossly abnormal hand. This infant is another
example of type II osteogenesis imperfecta. The head is
grossly abnormal. The ear is not truly low set but gives
this appearance due to the abnormal skull.
Figure 2.66. This infant with short extremities due to multiple in utero
fractures is an example of type III osteogenesis imperfecta. The head is
slightly enlarged, giving the ears a low-set appearance.
2.66
76
2.67
2.68
Figure 2.67. Total body radiograph of the same

infant as in Figure 2.66 showing the numerous
intrauterine fractures of the long bones of the
extremities resulting in shortening of the extremities, and the intrauterine fractures of the ribs resulting in a narrow chest. Note the density above the
right side of the pelvis. This is the umbilical cord
stump which appears as an opacity in an abdominal
radiograph where gas is lacking in the gastrointestinal tract.
Figure 2.68. Another example of type III osteogenesis imperfecta showing the bowing and shortening of limbs due to intrauterine fractures. The
skull is large and abnormal due to the lack of mineralization and multiple wormian bones. This
infant also has a narrow chest due to intrauterine
fractures of the ribs.
2.69
Figure 2.69. Radiograph of the skull in an infant with osteogenesis imperfecta. Note the lack of mineralization with
wormian bones. Clinically one feels multiple small bones over
the skull. There is a thin cortex with minimal skull ossification
and generalized osteoporosis.
Dwarfism
77
2.70
Figure 2.70. Another radiograph of an infant

with type III osteogenesis imperfecta. Note the
intrauterine fractures and bowing of the long
bones.
2.71
Figure 2.71. Radiograph of osteogenesis imperfecta in a neonate. Note the fracture of the proximal part of the left femur and the marked bowing
of the other long bones. This alerts one to the fact
that mild forms of osteogenesis imperfecta may
occur.
2.72
Figure 2.72. Type III osteogenesis imperfecta in identical twins. Note the large heads
and the bowing of the long
bones due to mild intrauterine
fractures.
78
2.73
2.74
Figure 2.73. Radiograph of the skulls of the same twins as

in Figure 2.72 showing the marked lack of mineralization.
2.75
Figure 2.74. Short-limbed dwarfism in

an infant with the Saldino-Noonan syndrome. This infant demonstrates the
marked narrowing of the thorax with a
large abdomen. The large abdomen is
commonly seen in infants with a narrow
thorax because the subcostal space is too
small to accommodate the liver. The
abdomen, per se, is normal. In this form of
short-limbed dwarfism there is a narrow
chest, due to short ribs, and polydactyly.
(Richardson MM, Beaudet AL, Wanger
ML, Malinis Rosenberg HS, Lucci JL:
Prenatal diagnosis of recurrence of
Saldino-Noonan dwarfism. J. Pediatr 91:
467-471. Reprinted with permission from
Mosby Year Book, Inc., St. Louis, MO.)
Figure 2.75. Body radiograph of an infant with SaldinoNoonan syndrome. In this form of short-limbed dwarfism,
hydrops is usually present, the chest is extremely narrow due to
the very short horizontal ribs, and the long bones are
extremely short and jagged.
Dwarfism
79
2.76
2.77
Figure 2.77. Skull radiograph, anteroposterior and lateral,

showing the poor mineralization. Note the high clavicles.
Figure 2.76. Anteroposterior and lateral

radiograph of another infant with SaldinoNoonan syndrome. Note the horizontal,
very short ribs, the high clavicles and the
extremely short, jagged long bones.
2.78
Figure 2.78. A close-up

of the right upper extremity showing the extremely
short, jagged long bones
and poor development of
the metacarpals and phalanges. Note the polydactyly.
80
2.79
Figure 2.79. In Seckels bird-headed dwarfism

there is severe growth retardation with proportional
dwarfism. This infant at 35 weeks gestation had a
birth weight of 910 g, a length of 31.5 cm, and a
head circumference of 23 cm, all less than the 10th
percentile. There was severe microcephaly with
premature fusion of all sutures, prominent eyes, a
prominent beak-like nose, micrognathia, and malformed ears (low-set and lack of lobe). These
infants have postnatal growth retardation and moderate to severe mental retardation.
2.80
Figure 2.80. A close-up of the face of the same

infant showing the severe microcephaly, the prominent eyes, the beak-like nose, and micrognathia.
Note the low-set ear with lack of ear lobe. On CT
scan the ventricles were barely perceptible and
small in size.
2.81
Figure 2.81. A less severe example of the Seckels bird-headed

dwarfism in which the microcephaly is striking but the other features
are not as prominent.
Dwarfism
81
2.82
Figure 2.82. Radiograph of the skull in the same

infant with Seckels bird-headed dwarfism. Note
the narrow (but not closed) sutures and tooth bud
mineralization (incisors and first molars) in this
infant. The tooth mineralization indicates that
this infant had a gestational age of 35 weeks.
Figure 2.83. This infant is a
typical example of spondylothoracic dysplasia (JarchoLevin syndrome). She had
marked shortness of the neck
and posterior aspect of the
chest, with an increased diameter of the thoracic cage. The
limbs were long and thin with
tapering digits. Note the broad
forehead and wide nasal bridge
with anteverted nares. These
infants typically have multiple
anomalies of the vertebrae and
a short thorax with a diminished number of ribs.
2.83
2.84
Figure 2.84. View of the back of

the head and neck of the same
infant showing the marked shortness of the neck and prominence
of the occiput.
82
2.85
2.86
Figure 2.85. The fingers of the same infant as in Figure

2.83 and 2.84 show the typical long tapering digits
(arachnodactyly) which are often noted in spondylothoracic dysplasia.
Figure 2.86. In this figure, note the

extremely long tapering toes of the same
infant.
2.87
Figure 2.87. Chest radiograph of an infant with
spondylothoracic dysplasia
showing the grotesque and
bizarre deformity of the ribs
and spine. There is marked
vertebral column shortening and numerous vertebral
anomalies consisting of
hemivertebrae, absent vertebrae, cleft vertebrae, and
open neural arches. The
severe deformity of the
spinal column leads to posterior crowding and a fanlike appearance of the ribs
on the frontal radiograms.
The thorax is short on the
right side due to a diminished number of ribs. The
rib deformities are asymmetric.
Dwarfism
83
2.88
Figure 2.88. Radiograph of the thorax and

abdomen in a less severe example of spondylothoracic dysplasia. Note the marked
abnormalities in segmentation of the vertebrae. These abnormalities extend the total
length of the spine, resulting in marked
deformity of the spine (scoliosis, kyphosis).
2.89
Figure 2.89. Short-limbed dwarfism in an infant with

thanatophoric dysplasia. This form of dwarfism is more
common in males. Note the large head and hypertelorism. The chest is markedly narrowed with a large
protruding abdomen. The limbs are short and there are
increased skin folds about the extremities. These infants
do not survive.
2.90
Figure 2.90. Lateral view of

the same infant with thanatophoric dysplasia. The length
of the infant at term was 40 cm
due to the extremely shortened
and bowed extremities. The
head is large with a circumference of 40 cm. Note the
prominent forehead.
84
2.91
Figure 2.91. The right hand of the same infant

demonstrating the marked brachydactyly and a single
palmar crease.
2.92

an infant with thanatophoric dysplasia. Note the hypotonia, large
head, narrow thorax due to short
ribs, prominent abdomen, and
markedly shortened extremities.
These infants with their large head
and micromelia may be mistakenly
diagnosed as having achondroplasia.
2.93
Figure 2.93. A close-up of the

face of the same infant showing
the large head, prominent forehead, hypertelorism, and flat nasal
bridge. Note the narrow chest
and short upper extremity with
brachydactyly.
Dwarfism
85
2.94
Figure 2.94. Body radiograph of an infant with

thanatophoric dysplasia. Note the large head,
narrow thorax due to short ribs, the typical Vshaped clavicles, and the prominent abdomen.
Also note the marked flattening of the vertebral bodies. The ossification centers of the vertebrae are reduced.
2.95
Figure 2.95. Anteroposterior radiograph of

chest and abdomen in an infant with
thanatophoric dysplasia. Note the short ribs
which result in a narrow chest and the
marked flattening of the vertebral bodies.
The long bones demonstrate the marked
shortening and bowing with the cupped irregular flaring of the proximal and distal metaphyses (the telephone receiver sign) which
is especially noted in the femora.
86
2.96
2.97
Figure 2.97. Radiograph of the upper extremities in an infant

with thanatophoric dysplasia. Note the extremely shortened
long bones with proximal and distal metaphyseal flaring.
Figure 2.96. Lateral radiograph of the

same infant showing the marked flattening of the vertebral bodies and flat
ends to the ribs. In an infant with
short-limbed dwarfism, this finding is
diagnostic of thanatophoric dysplasia.
2.98
Figure 2.98. Radiograph of the lower extremities of the

same infant again demonstrating the marked shortening of
long bones with proximal and distal metaphyseal flaring.
Chapter 3
Non Chromosomal Syndromes,
Associations, and Sequences
A syndrome, association, sequence, or complex is a constellation of abnormal physical signs, each
nonspecific in isolation but resulting in a mosaic that can be diagnosed with confidence. The
pathogenic mechanisms involved are variable. The clinical presentation depends on the pathogenic mechanism and the time of occurrence. Approximately 2% of all newborn infants have a
significant malformation which may be relatively simple or complex. The later the defect develops in gestation, the more simple the malformation. In 10% of these infants, a chromosomal
abnormality can be detected. In approximately 20%, the malformations are based on a single
gene defect, with autosomal dominant disorders predominating. Multifactorial inheritance
accounts for 30% of neonates with malformations. A small percentage of malformations is seen
in infants born to diabetic mothers or mothers who have received a known teratogenic drug. The
remaining 35% of newborn infants have no identifiable cause for their malformations. In infants
with malformations, 7.5% are associated with deformations (see Volume I, Chapter 5).
Malformations and deformations may recur with a similar pattern. Disruptions tend to be sporadic and no two cases are exactly alike. Due to limitations of space, this section can demonstrate
only some very characteristic findings; therefore the clinician should not consider these descriptions to be complete and should refer to other references as needed.
87
88
3.1
3.2
Figure 3.1. The top half of the figure shows

macroglossia and a nevus flammeus; the
lower portion shows an omphalocele; both in
an infant with Beckwith-Wiedemann syndrome (exomphalos-macroglossia-gigantism
[EMG] syndrome). It is usually sporadic and
60% of cases occur in females. Hemihypertrophy occurs in 10 to 15% of the infants.
Figure 3.2. Another example of an infant with the

typical macrosomia (birthweight of 3950 g), polycythemia (hematocrit 66%) and hypoglycemia. Note
the macroglossia, nevus flammeus over the glabellar
region and the eyelids, and the prominent eyes with
relative infraorbital hypoplasia.
3.3

Beckwith-Wiedemann syndrome
shows the prominent occiput and
typical transverse crease in the
lobe of the ear.
Syndromes, Associations and Sequences
89
3.4
Figure 3.4. Transverse creases of the lobes of the

ears in an infant with Beckwith-Wiedemann
syndrome.
3.5
Figure 3.5. This 2-month-old infant with Caffeys

syndrome (infantile cortical hyperostosis) shows
the characteristic swelling of the jaw and right
forearm. It usually occurs in a well-nourished
infant. When the jaw is involved there is usually
marked swelling of the face, mainly localized over
the jaw. Most commonly this condition is diagnosed in the first few months of life, but congenital Caffeys syndrome has been reported.
3.6
Figure 3.6. The same infant with

Caffeys syndrome. Note that the left
arm is normal but the right forearm is
swollen and tender.
90
3.7
3.8
Figure 3.7. A radiograph showing the cortical hyperostosis of the jaw in an infant at the
age of 412 months.
Figure 3.8. Lower extremity radiograph of the same

infant at the age of 1 month. Note the early cortical
hyperostosis of the femur and tibia.
3.9
Figure 3.9. Follow-up radiograph of the lower extremity in the

same infant at the age of 412 months shows the marked cortical
hyperostosis of the left tibia. Periosteal thickening of the long
bones with translucent bands at the distal epiphyseal ends is
diagnostic. Later, the bones expand and the cortex is thinned.
The enlarged medullary cavity has little trabeculation and the
soft tissue is swollen. The condition is self-limiting.
91
3.10
3.11
Figure 3.11. Abnormal ear in an infant with the

CHARGE association.
Figure 3.10. Infant with the CHARGE association. Occurrence is non-random and is
characterized by coloboma, heart disease,
atresia of the choanae, retarded postnatal
growth and development, genitourinary
anomalies, and ear anomalies and deafness.
Most infants have some degree of mental deficiency. The coloboma commonly involves the
retina but may range in severity from an isolated coloboma of the iris to anophthalmos.
3.12
Figure 3.12. Cornelia de Langes syndrome

(Brachmann-de Lange syndrome: typus
degenerativus amstelodamensis). One hundred percent of these infants have shortness
of stature of prenatal onset, mental retardation and sluggish physical activity, hypoplastic nipples, initial hypertonicity and a
low-pitched, weak, growling cry in infancy.
Most of the infants have early feeding difficulties and early growth failure. In this infant
note the bushy eyebrows and micromelia.
92
3.13
3.14
Figure 3.13. Close-up of face of the same infant as in Figure

3.12. Note the hirsutism, bushy eyebrows, downward slanting
palpebral fissures, and micrognathia.
Figure 3.14. This infant with Cornelia
de Langes syndrome shows many of the
characteristic findings: coarse, mop-like
hair; bushy eyebrows and synophrys (confluent, thick eyebrows); long curly eyelashes; short nose with small anteverted
nostrils; thin lips with a small midline
beak of the upper lip; long philtrum; and
downward curving of the angles of the
mouth. The infants often have a masklike expression.
3.15
Figure 3.15. Another infant with Cornelia de

Langes syndrome showing the typical microbrachycephaly seen in over 90% of these infants, bushy
eyebrows, small nose and micrognathia. Note the
low-set ear and cutis marmorata which are also very
common findings in Cornelia de Langes syndrome.
93
3.16
Figure 3.16. Anomalies of the extremities

are common in infants with Cornelia de
Langes syndrome varying from the most
severe (micromelia) to small hands and feet
(microcheiria and micropodia). This infant
with Cornelia de Langes syndrome has
microcheiria of the right hand. Both a single palmar crease (simian crease) and clinodactyly are very common in infants with
this syndrome.
3.17
Figure 3.17. Syndactyly of

the first, second, third and
fourth toes in an infant with
Cornelia de Langes syndrome. The most common
type of syndactyly is that of
the second and third toes
which is seen in many
normal infants and in many
syndromes.
3.18
Figure 3.18. DiGeorge malformation complex. This is a

primary defect of the fourth branchial arch and the third
and fourth pharyngeal pouch. In this infant note the lateral
displacement of the inner canthi (hypertelorism), the
anteverted nares, and short philtrum with a cupid-bow
mouth. This infant also had micrognathia, microcephaly,
congenital heart disease (atrial septal defect and ventricular
septal defect) and hypocalcemia. Note the congenital facial
palsy which is not part of the complex. The EEG was grossly
abnormal and the T cell count was decreased.
94
3.19
3.20
Figure 3.19. Abnormal dysplastic ear in

the same infant. The acronym CATCH
22 syndrome has been applied to
DiGeorge syndrome in that there are cardiac defects, abnormal facies, thymic
hypoplasia, cleft palate, hypocalcemia,
and 22q11 deletion.
Figure 3.20. In the ectrodactyly-ectodermal dysplasiaclefting (EEC) syndrome there are varying manifestations of lobster-claw deformity (ectrodactyly) of the
hands and feet and there is cleft lip/palate. The cleft lip
is usually bilateral. Other manifestations include
absence of the lacrimal puncta with tearing and blepharitis; abnormal teeth; malformations of the genitourinary (GU) tract such as cryptorchidism; and
alterations in the skin and hair. Scalp hair, eyelashes and
eyebrows are usually sparse and hair color is light. The
nails may be hypoplastic and brittle. Most of these
infants have normal intelligence. In this infant note the
severe bilateral cleft lip and palate.
3.21
Figure 3.21. In this figure of

the same infant note the
ectrodactyly (lobster-clw deformity) of both hands. In this
condition, usually all four
extremities have a lobsterclaw deformity.
95
3.22
Figure 3.22. Dorsal view of the ectrodactyly of both

feet of the same infant.
3.23
Figure 3.23. The same infant showing the soles

of the feet.
3.24
Figure 3.24. Eagle-Barrett syndrome (prune belly syndrome) is also described as the triad syndrome: absence
of abdominal musculature, genitourinary tract abnormalities, and cryptorchidism. In this fetus there is a
markedly distended abdomen due to a very distended
bladder. It is now thought that the genitalia and
urinary tract abnormalities are the precursor of the
absence of abdominal musculature.
96
3.25
Figure 3.25. The characteristic

findings of prune belly syndrome
are present in this infant. Note
the marked laxity of the abdominal wall giving it the appearance
of a prune, and the large mass
on the left side of the abdomen
due to massive dilatation of the
ureter and hydronephrosis. Also
note the cryptorchidism.
3.26
Figure 3.26. Another

example of absence of
abdominal
musculature.
Note the typical appearance
of the prune belly on the left
of the figure and the transillumination showing the
massive hydroureter on the
right.
3.27
Figure 3.27. Appearance of

absence of abdominal musculature in another infant.
97
3.28
Figure 3.28. Cryptorchidism in an infant

with prune belly syndrome.
3.29
Figure 3.29. A common finding

in infants with prune belly syndrome is a patent urachus.
3.30
Figure 3.30. Radiograph of abdomen showing the bulging of

the flanks and abnormal gas pattern due to genitourinary tract
abnormalities in an infant with Eagle-Barrett syndrome.
98
3.31
3.32
Figure 3.31. Contrast study in the same infant as

in Figure 3.30 showing the massive hydroureter.
Figure 3.32. This infant with Ehlers-Danlos

syndrome (cutis hyperelastica) presented at birth
with marked hypotonia, joint hypermobility, and
hyperextensibility of the skin. Note the epicanthal folds.
3.33
Figure 3.33. Figure of the same

infant showing the webbing of
the neck and hyperextensibility of
the skin. The elasticity of the skin
allows it to stretch and recoil,
whereas in cutis laxa the skin
hangs down in loose folds and
does not recoil, and the joints are
not hyperextensible as is seen in
Ehlers-Danlos syndrome.
99
3.34
Figure 3.34. In the same infant note the hyperextensibility of the skin and the mild skin defects.
There may be flat scars with paper-thin scar tissue,
and hematomas occur after mild trauma in EhlersDanlos syndrome.
3.35
Figure 3.35. Other findings in Ehlers-Danlos syndrome include diaphragmatic hernia, congenital
heart defects, and renal anomalies. There may be
ectasia of portions of the gastrointestinal and respiratory tracts. The infant had an atrial septal defect, a
small left diaphragmatic eventration, absence of the
right mesocolon, and a double collecting system of
the left kidney with an ectopic right kidney in the
pelvis. The infant also demonstrates the second and
fourth toes set dorsally to the first, third, and fifth
toes and connected by a web.
3.36
Figure 3.36. The renal system of the same infant at

autopsy shows the ectopic right kidney which was in the
pelvis and the left kidney with a double collecting system
proximally.
100
3.37
3.38
Figure 3.38. In this figure of the same infant note the marked
frontal bossing, the large anterior fontanelle, the short nose,
long philtrum, and micrognathia.
Figure 3.37. The fetal face syndrome
(Robinows syndrome or mesomelic dysplasia). These infants have slight to
moderate shortness of stature, macrocephaly, a large anterior fontanelle, and
frontal bossing with apparent hypertelorism, a short nose with anteverted
nares, a long philtrum, and a small
mouth with micrognathia. These result
in a flat facial profile. The appearance of
the face is similar to that of a fetus of
about 8 weeks gestation. Hyperplastic
alveolar ridges are present and a
microphallus is a frequent finding.
3.39
Figure 3.39. The chest and

infant show the mesomelic
dwarfism with the short forearms
and brachydactyly. Mesomelic
dwarfism affects the upper
extremities more than the lower
in these infants. There is mild
pectus excavatum. Also note
that this infant has some breast
hypertrophy due to mastitis
neonatorum.
101
3.40
3.41
Figure 3.40. Note that the lower extremities of the same

infant are normal except for the presence of bilateral
rocker-bottom feet.
Figure 3.41. Infants with the femoral

hypoplasia-unusual facies syndrome present with small stature and a typical
facies. There are upslanting palpebral
fissures, a short nose with hypoplastic alae
nasi, a long philtrum, and a thin upper lip.
A cleft palate may be present.
3.42
Figure 3.42. In this figure of the same infant note the abnormal lower extremities. These may be due to hypoplastic or
absent femora and fibulae. In this infant the femora were
absent and note also the bilateral talipes equinovarus.
Hypoplasia of the humeri with restricted elbow movement may
also occur in this syndrome.
102
3.43
Figure 3.43. Another

infant with the femoral
hypoplasia-unusual facies
syndrome. Note the small
stature, predominantly the
result of the small lower
limbs.
3.44
Figure 3.44. Close-up of the lower extremities of

the same infant showing the absence of the femora.
3.45
Figure 3.45. Posterior view of the lower extremities of the

same infant.
103
3.46
3.47
Figure 3.46. Radiograph of the lower extremities of

the same infant showing the absence of femora bilaterally, a hypoplastic fibula on the right and an absent
fibula on the left. In these infants, the acetabula may
be hypoplastic and there may be a constricted iliac
base with a vertical ischial axis.
Figure 3.47. Another case of the femoral

hypoplasia-unusual facies syndrome. Note
the typical appearance of the face with the
upslanting palpebral fissures, the short nose
with hypoplastic alae nasi, long philtrum
and micrognathia which was due to marked
hypoplasia of the mandible. This infant also
had a cleft palate which may be a part of
this syndrome.
3.48
Figure 3.48. This figure of the same infant shows

the short lower extremities with abnormal
hypoplastic femora.
104
3.49
3.50
Figure 3.49. Radiograph of the same infant. The wings

of the ilia are slenderized, the acetabular cavities are
very shallow and ill formed, and there is bilateral dislocation of the hips. There are symmetric angular deformities in the midshafts of both femora which are
shortened in length.
Figure 3.50. This infant, born at 35 weeks gestation, had Frasers syndrome (cryptophthalmos
syndrome). Note the cryptophthalmos on the
left and the microphthalmia on the right. The
infant had a cleft lip on the left and a high
arched palate. There was subglottic tracheal
obstruction. In Frasers syndrome there is cryptophthalmos usually with a defect of the eye,
and hair growth on the lateral forehead extends
to the lateral eyebrow. Cryptophthalmos is
bilateral in 50% of cases. There may be
hypoplastic, notched nares and a broad nose
with a depressed bridge. There are ear anomalies, most commonly cupping. Other findings
in the syndrome include laryngeal stenosis or
atresia, renal agenesis, and incomplete development of the male or female genitalia. There
may be partial cutaneous syndactyly.
3.51
Figure 3.51. In this figure of the

same infant, note the abnormal
ears with marked cupping.
105
3.52
Figure 3.52. Cutaneous syndactyly (webbing) of the

fingers is present in the same infant.
3.53

with Frasers syndrome showing
the webbing of the toes.
3.54
Figure 3.54. Clitoromegaly in

the same infant with Frasers syndrome. The uterus and ovaries
were present on ultrasound and
there was bilateral renal agenesis.
106
3.55
3.56
Figure 3.56. The upper extremity of the same infant

with the Freeman-Sheldon syndrome. Note the ulnar
deviation of the hand and contracted fingers.
Figure 3.55. Freeman-Sheldon syndrome

(whistling face syndrome or cranio-carpotarsal dystrophy) is an autosomal dominant
condition. Note the full forehead and mask-like
facies with a small mouth giving a whistling
face appearance. There is a broad nasal bridge
with deep set eyes and blepharophimosis. The
nose is small with hypoplastic alae nasi and a
long philtrum. Note the H-shaped cutaneous
dimpling on the chin and there may be a high
palate and small tongue. These infants may
have failure to thrive due to swallowing difficulties, but intelligence is in the normal range.
3.57
Figure 3.57. In this figure of the same

infant, note the contractures of the toes.
Talipes equinovarus may be present.
107
3.58
Figure 3.58. Goldenhars syndrome (facioauriculovertebral spectrum; oculoauriculovertebral dysplasia) is associated with abnormalities
of the first and second branchial arches. This
infant shows the antimongoloid slant, bilateral
macrostomia, and skin tags. Over 90% of these
infants have ear abnormalities (small or unusually shaped ears, preauricular tags, and pits).
They may have abnormalities of the cervical
vertebrae, particularly hemivertebra, coloboma
of the upper eyelids, and epibulbar dermoids.
Congenital heart disease may be present in onethird of these infants. More than 80% of the
infants have normal intelligence.
3.59
Figure 3.59. Another infant with Goldenhars syndrome showing the abnormal ear and preauricular skin
tags in a line extending from the ear to the macrostomic
mouth. Characteristic of Goldenhars syndrome is the
combination of unilateral facial hypoplasia, epibulbar
dermoid, ocular abnormalities, preauricular appendages,
and unilateral dysplasia of the auricle.
3.60
Figure 3.60. This infant is another

example of Goldenhars syndrome. She
has macrostomia with a unilateral right
facial cleft. In addition, there were ear
epibulbar dermoids, and cardiac and
vertebral abnormalities.
108
3.61
3.62
Figure 3.61. This composite figure of the

same infant as in Figure 3.60 shows the
abnormalities of the ears with preauricular
tags and epibulbar dermoids.
Figure 3.62. Another infant with Goldenhars syndrome

showing the lateral facial cleft, abnormal ear, preauricular
skin tag, and abnormal skin from the corner of the mouth
to the ear due to lack of normal fusion during development of the face.
3.63
Figure 3.63. The same infant showing

arthrogryposis.
109
3.64
Figure 3.64. Infants with Hallermann-Streiff

syndrome (oculomandibulofacial syndrome,
Franois dyscephaly) have proportionate
dwarfism. They also have brachycephaly with
frontal and parietal bossing; hypotrichosis is
present and the face appears small in relation
to the skull. An antimongoloid slant of the
eyes is common, and there is a narrow beaked
nose and a hypoplastic mandible which gives
the face a somewhat bird-like appearance.
The mouth is small and there may be natal or
supernumerary teeth. These infants often
have bilateral congenital cataracts.
Figure 3.66. In this figure note the antimongoloid slant of the

eyes, narrow beaked nose, small pinched mouth, micrognathia,
hypoplastic mandible and hypotrichosis.
3.65
Figure 3.65. A lateral view of the same infant.

Note the brachycephalic skull, small nose,
micrognathia, and marked hypotrichosis.
These infants have normal intelligence.
3.66
110
3.67
3.68
Figure 3.67. In this figure of the same infant as in

Figure 3.66 note the high arched palate.
Figure 3.68. Infants with the Klippel-Feil

syndrome or anomaly have a head which
appears to be directly on the thorax. The
facies is distorted and the ears are low set.
Fusion or malformation of the cervical and
upper thoracic vertebrae produces the short
neck with head tilt and low posterior hairline.
Strabismus is common.
3.69
Figure 3.69. Posterior view of the

same infant showing the short neck
(congenital brevicollis) and the low
hairline.
111
3.70
3.71
Figure 3.71. In this infant with the Klippel-Feil syndrome note the abnormal ear and short neck on the left.
On the right, note that the abnormality of the ear results
from pressure of the shoulder on the developing ear a
deformation.
Figure 3.70. A lateral view of the face,

neck and chest of another infant with
Klippel-Feil syndrome. Note the extremely
short neck with low hairline and very
abnormal ear.
Figure 3.72. Anteroposterior radiograph of an infant

with Klippel-Feil syndrome showing the numerous cervical spine vertebral body anomalies.
3.72
112
3.73
3.74
Figure 3.73. Lateral radiograph of the same infant

as in Figure 3.72 with Klippel-Feil syndrome again
shows cervical vertebrael anomalies resulting from
abnormal fusion of the cervical vertebrae. There
may be other associated skeletal defects such as the
Sprengels deformity or thoracic hemivertebrae. If
the brachial plexus is involved, it may result in
deformities of the hand.
Figure 3.74. Infants with the LangerGiedion syndrome have a bulbous nose,
tented alae nasi, and a prominent elongated philtrum. There is a thin upper lip
with mild micrognathia and mild microcephaly. Scalp hair is sparse. The ears are
hypertrophic with excessive folding and
tissue mass. The skin is redundant and
loose. This infant, in addition to the
above findings, had cutis verticis gyrata.
3.75
Figure 3.75. In this figure of the same

infant again note the bulbous nose,
thin upper lip on the left and the cutis
verticis gyrata on the right. The trichorhinophalangeal syndrome has
many similarities to Langer-Giedion
syndrome except that the redundant
skin and microcephaly are not present.
113
3.76
Figure 3.76. Close-up of the ears of the same infant

showing the hypertrophy with excessive folding and tissue
mass.
3.77
Figure 3.77. The same infant had large vertical creases on both plantar surfaces anteriorly. These are strongly associated with
trisomy 8. The Langer-Giedion syndrome
recently has been associated with a deletion
of the long arm of chromosome 8.
3.78
Figure 3.78. This infant

with Larsens syndrome
demonstrates the prominent
forehead, depressed nasal
bridge, and dislocation of
the elbows on the left. On
the right there is dislocation of the hips, knees, and
talipes equinovarus.
114
3.79
3.80
Figure 3.79. In Larsens syndrome there is a

flat facies associated with a prominent forehead, a flat and depressed nasal bridge, and
the eyes are wide set.
Figure 3.80. A lateral view of

the face of the same infant
shows the very flat facies associated with a prominent forehead
and depressed nasal bridge.
Note that the eyes are rather
deep set.
3.81
Figure 3.81. In this infant with Larsens syndrome note the

congenital dislocation of the left knee, metatarsus varus, and
large big toe.
115
3.82
Figure 3.82. Infants with Larsens syndrome

have other characteristic findings in addition
to the flat facies and multiple joint dislocations (elbows, hips, and knees). Note the
broad spatulate thumb and altered hand position due to the short metacarpals (upper
photo), and the big toe and hypoplastic nails
(lower photo).
3.83
Figure 3.83. In the same infant, note

the typical large big toe and metatarsus
varus.
3.84
Figure 3.84. This infant with Larsens syndrome has spatulate

thumbs and shortened metacarpals. Also note the absence of nails
on the third and fourth fingers of the right hand.
116
3.85
3.86
Figure 3.86. This radiograph of the hand clearly demonstrates the short metacarpals noted in Larsens syndrome.
Figure 3.85. A dorsal view of the hand

in the same infant shows the short
metacarpals with normal fingers thus giving the appearance of a short hand.
3.87
Figure 3.87. Radiograph of bilateral dislocation of the knee

joints in Larsens syndrome.
117
3.88
3.89
Figure 3.89. X-ray of the neck in Larsens

syndrome.
3.90
Figure 3.88. Radiograph of the spine of an

infant with Larsens syndrome showing the
abnormal segmentation of the vertebrae, especially in the cervical and upper thoracic areas.
Also note the dislocation of the hip joints.
Figure 3.90. This infant with leprechaunism

(Donohues syndrome) demonstrates the very severe
intrauterine growth retardation. The infant had a birth
weight of 750 g at a gestational age of 37 weeks. At age
3 weeks the weight was 780 g. Note the marked
hirsutism, sunken cheeks, pointed chin, large mouth,
thick lips, wide nostrils, large eyes, large ears, and
enlarged clitoris.
118
3.91
3.92
Figure 3.91. A close-up of the face of the

same infant as in Figure 3.90 at the age of 3
weeks again shows the severe growth retardation, sunken cheeks, pointed chin, large
mouth, large eyes that have a very alert expression, and large ears. Note the gingival
hyperplasia.
Figure 3.92. A lateral view of the face of

the same infant. Note the sunken face and
very large ears in the upper half of the figure. The lower portion of the figure shows
the large hands that are seen in these
infants. Note the marked loss of subcutaneous tissue and wrinkled, loose skin.
Infants with Donohues syndrome commonly have large hands and feet. At
autopsy the infant had cystic ovaries which
are typically found in this condition.
3.93
Figure 3.93. This infant, in addition, had a

rectal prolapse. Note the wrinkled, loose
skin associated with marked lack of adipose
tissue.
119
3.94
Figure 3.94. In Lowe syndrome (oculocerebrorenal syndrome) there is marked hypotonia and joint
hypermobility.
3.95
Figure 3.95. The same infant with

Lowe syndrome has bilateral
cataracts and epicanthic folds.
3.96
Figure 3.96. Corneal clouding and epicanthic folds are present in the same infant.
120
3.97
Figure 3.97. In Lowe syndrome,

renal tubular dysfunction and cryptorchidism are common. Note the
presence of cryptorchidism.
3.98
Figure 3.98. A term newborn with

Marfan syndrome who had a birth
weight of 3720 g and a length of 54
cm. Note the tall stature with long
slim limbs and hypotonia. In Marfan
syndrome, limbs are disproportionately long and trunk length is usually
normal resulting in a low upper/lower
segment ratio. Ophthalmologic and
cardiovascular pathologies, such as
dislocation of the lens and aneurysmal dilatation of the aorta, are usually noted after the neonatal period.
3.99
Figure 3.99. In this infant with
Marfan syndrome, note the marked
lengthening of the fingers (arachnodactyly). The diagnosis of Marfan syndrome may be difficult in
the neonatal period because many
normal infants appear to have long
fingers. The combination of an
increased birth length and a decreased upper / lower segment ratio
should alert one to the possibility of
this diagnosis. In older children the
disproportion can often be detected
by noting that the finger tips reach
much further down the thigh than
usual in the standing position.
121
3.100
Figure 3.100. In Marfan syndrome when the patient

makes a fist, the thumb often extends beyond the fifth
finger as shown in the same infant.
3.101
Figure 3.101. This neonate with Marfan syndrome

exhibits the long fingers with increased creases on the
fingers. This finding is common in infants who have
increased mobility and hyperextensibility at the joints
during development in utero and is seen in conditions
such as Marfan syndrome and Larsens syndrome.
3.102
Figure 3.102. The same infant with Marfan syndrome shows the long foot and arachnodactyly.
122
3.103
3.104
Figure 3.103. This is another example of

long feet and toes in an infant with Marfan
syndrome. Note the bilateral congenital curly
toes. This infant had a birth length of 53 cm
and an upper/lower segment ratio of 1.41.
The normal upper/lower segment ratio at
birth is 1.69 to 1.70. In short-limbed dwarfism
and hypothyroidism it averages 1.8 or more,
and in Marfan syndrome it averages 1.45.
Figure 3.104. The typical findings in Meckel-Gruber

syndrome (dysencephalia splanchnocystica) include
encephalocele, polydactyly, and cystic dysplasia of the
kidneys. In this infant there was marked oligohydramnios, deformations, encephalocele, hypoplastic lungs,
infantile polycystic kidneys, and polydactyly. On the left
note the marked abdominal distention due to the polycystic kidneys and on the right note the parieto-occipital encephalocele. (C. Langston)
3.105

showing the polydactyly of both
hands and polydactyly of the right
foot. (C. Langston)
123
3.106
3.107
Figure 3.106. Bilateral infantile polycystic kidneys in

the same infant with Meckel-Gruber syndrome. The right
kidney weighed 210 g and the left kidney 200 g. (C.
Langston)
Figure 3.107. Full-body radiograph

of the same infant. Note the marked
skull defect associated with an
encephalocele; the bell-shaped thorax
and hypoplastic lungs; and the
enlarged abdomen bulging in the
flanks associated with the infantile
polycystic kidneys.
3.108
Nagers acrofacial dysostosis syndrome shows the slight antimongoloid slant, prominent nose,
malar hypoplasia, micrognathia,
and atresia of the external auditory
canal. Associated with the
hypoplastic mandible may be a
bony cleft of the mandibular symphysis. In addition, the infant had
radial hypoplasia and absence of
thumbs. This infant required an
emergency tracheostomy. Also
note the projection of the scalp
hair onto the lateral cheek.
124
3.109
3.110
Figure 3.110. This figure shows the abnormal ears with

atresia of the external auditory canals in the same infant.
Figure 3.109. Frontal view of the face of

the same infant as in Figure 3.108. The
facial appearance resembles that of infants
with Treacher-Collins syndrome. Note the
partial absence of eyebrows which is
another feature in these infants.
3.111
Figure 3.111. Hypoplastic radius
and ulna and absent thumb in the
right upper extremity of the same
infant. Hypoplasia or aplasia of the
radius and absence of the thumb
may or may not be present in
infants with Nagers syndrome.
This infant also had these typical
findings in both upper extremities.
This results in short forearms and
there may be proximal radioulnar
synostosis and limitation of elbow
extension. Postaxial hexadactyly of
the hands and feet and synostosis
of the metacarpals and metatarsals
may occur.
125
3.112
Figure 3.112. Radiograph of the right upper extremity showing the hypoplastic radius and ulna and absent
right thumb.
3.113

extremities of the same infant showing
hypoplasia of the right fibula and absence
of the left fibula.
3.114
Figure 3.114. This infant with orofaciodigital syndrome type I (an X-linked
dominant disorder limited to females
because it is lethal in males) has an
enlarged head from hydrocephalus.
126

3.116
3.115
Figure 3.115. This frontal view of the same

infant as in Figure 3.114 shows the typical
facial appearance. Note the wide interorbital
distance (euryopia), lateral displacement of the
inner canthi, the flat midfacial region, and one
nostril which is smaller than the other. The
nasal root is broad, there is a short upper lip
with a thin vermilion border, and typically
milia are present in these infants.
Figure 3.116. In these figures the same infant shows the

clefting of the palate and the small hematomatous
masses on the dorsal and ventral surfaces of the tongue.
Neonatal teeth and ankyloglossia are present. There is
also webbing between the buccal mucous membranes
and the alveolar ridge.
3.117
Figure 3.117. The same infant has brachydactyly,

clinodactyly, and syndactyly of the fingers of the left hand.
127
3.118
Figure 3.118. The right hand of the same infant

with orofaciodigital syndrome again shows the
brachydactyly and syndactyly on the right. Note the
clinodactyly and prominence on the little finger due
to postaxial polydactyly.
3.119
Figure 3.119. The same infant also shows

marked brachydactyly of the toes. The hallux is
inclined laterally and there is syndactyly of the
second and third toes.
3.120
Figure 3.120. In the Pena-Shokeir phenotype type I (fetal

akinesia/hypokinesia sequence), there is severe intrauterine
growth retardation and diffuse atrophy of skeletal muscle
resulting in arthrogryposis with the head circumference spared.
There are low-set ears, a depressed tip of the nose, small
mouth, and micrognathia. It is suggested that this phenotype is
secondary to decreased in utero movement and as a result there
is polyhydramnios (due to failure of normal swallowing) and a
short umbilical cord. There may be severe neuromyopathic disease. Neuromuscular defisciency of the diaphragm and intercostal muscles results in pulmonary hypoplasia.
128
3.121
Figure 3.121. The lateral view of the

same infant as in Figure 3.120 shows
the poorly developed, low-set ear,
depressed nasal tip, and micrognathia.
3.122
Figure 3.122. A close-up of the face of the same infant shows hypertelorism,
telecanthus, and epicanthic folds, as well as the depressed nasal tip with a
small mouth and micrognathia.
3.123
Figure 3.123. This same

infant shows camptodactyly
due to contractures in the
fingers. Also note the poor
dermal ridges and absence of
flexion creases on the fingers
and palms due to lack of fetal
movement in the early weeks
of gestation.
129
3.124
Figure 3.124. Talipes equinovarus in the

same infant.
3.125
Figure 3.125. Another infant with the fetal

akinesia sequence showing the marked lack of
dermal ridges and creases. This infant had the
typical dysmorphic features of the face, webbing
of the neck, and severe intrauterine growth
retardation with generalized arthrogryposis.
3.126

also had rocker-bottom feet.
130

3.128
3.127
Figure 3.127. Cryptorchidism is common in

infants with the fetal akinesia sequence.
Figure 3.128. In a body radiograph of the same
infant with the fetal akinesia sequence, note the thin
gracile ribs, long thin clavicles, and thinning of all
the long bones. The soft tissue in the extremities
shows a lack of muscle mass. The appearance of the
gracile ribs and long clavicles are also seen in trisomy
18 and myotonic dystrophy.
3.129
Figure 3.129. This infant with cerebrooculofacioskeletal (COFS) syndrome (Pena-Shokeir syndrome type II) presented with generalized hypotonia,
hirsutism, characteristic facial features, widely spaced
nipples, joint contractures, camptodactyly, and rockerbottom feet.
131
3.130
3.131
Figure 3.131. A lateral view of the head and face of the

same infant shows the hirsutism, microcephaly, blepharophimosis, deep-set eyes, upper lip overlapping the
lower lip, and micrognathia.
Figure 3.130. A close-up view of the face of

the same infant showing the characteristic
facial features. Note the hirsutism, deep-set
eyes, prominent root of the nose, upper lip
overlapping the lower lip, and micrognathia.
3.132
Figure 3.132. In the close-up of the hand of this

infant with COFS syndrome in the upper figure note
the camptodactyly, and in the lower figure with the
hand open, note the absence of finger creases due to
lack of fetal movement early in gestation.
132
3.133
3.134
Figure 3.134. Infant with Polands anomaly showing

unilateral absence of the sternal and costal portions of
the pectoralis major muscle and brachysyndactyly of the
hand on the ipsilateral side. There may be absence or
hypoplasia and upward displacement of the nipple and
breast on the affected side.
Figure 3.133. The same infant as in Figure
3.132 demonstrates rocker-bottom feet.
Note the marked contracture accompanying this as seen in the right foot in the lower
figure. These infants also have a longitudinal groove in the soles along the second
metatarsal.
3.135
Figure 3.135. If the abnormality is not obvious, then

extending the arms is a
means of better demonstrating the abnormality as seen
in the same infant. Note the
absence of the nipple.
Occasionally there may be
some abnormalities underlying the defect.
133
3.136
3.137
Figure 3.137. Another example of Polands anomaly. In this infant the defect is more severe, in that
in addition to the lack of the pectoralis major there
are defects in other muscles such as the absence of
the pectoralis minor. In Polands anomaly, 75% of
the infants are male and in 70% the right side is
affected.
Figure 3.136. The hands of the same infant show

the brachysyndactyly. The hand on the affected
side is usually smaller than that on the unaffected
side. There is usually no bony synostosis. Less commonly the forearm is smaller on the affected side.
3.138
Figure 3.138. The defect the

chest wall was due to a deformation resulting from the abnormal hand being held in the
position-of-comfort where it
was lodged during the last few
weeks of gestation.
134
3.139
3.140
Figure 3.140. A close-up of the left hand showing the marked brachysyndactyly.
Figure 3.139. A close-up of the infant in Figure

3.138 showing the hand placed in the defect.
3.141
Figure 3.141. In about 15% of cases

there is an association of Polands
anomaly with Mbius syndrome. In
Polands anomaly the hand anomalies
are usually unilateral, whereas in
Mbius syndrome they are usually
bilateral. This infant with Polands
anomaly and Mbius syndrome shows
the mask-like facies, ptosis of eyelids,
drooping of the angles of the mouth,
and the absence of the right pectoralis
with a hypoplastic right forearm and
hand.
135
3.142
3.143
Figure 3.143. This infant has congenital dislocation of the

right hip and the bilateral clubfoot. Note the asymmetric
buttock creases typical of congenital dislocation of the hip.
In Mbius syndrome there may be deformities of the hands
and feet and arthrogryposis is not uncommon.
Figure 3.142. A close-up of the face of

the same infant. Note the mask-like
facies, eyelid ptosis, and drooping of the
angles of the mouth. These infants have
inefficient sucking and swallowing. In
Mbius syndrome there are usually bilateral cranial nerve palsies involving the
sixth and seventh cranial nerves.
Occasionally other cranial nerves (three,
five, nine and twelve) may be involved.
3.144
Figure 3.144. A chest radiograph in Polands

anomaly demonstrates the increased lucency of
the right upper chest, especially of soft tissue,
due to the absence of the pectoralis muscle.
Compare the appearance of the scapulae on
both sides. Note that the ribs are normal.
136
3.145
Figure 3.145. The pathologic appearance of the chest in an infant who had
congenital absence of the pectoralis
muscle.
3.146
Figure 3.146. This infant with the

popliteal
pterygium
syndrome
(popliteal web syndrome) shows the
unilateral cleft lip and cleft palate.
There are lip pits and also note the
remnants of the oral frenula which
have been cut. Oral frenula are typically seen in these infants and there
may be cutaneous webs between the
eyelids.
3.147
Figure 3.147. In the same infant

note the very marked popliteal webbing which extends from the leg up
to the thigh. Also note the divided
scrotum with cryptorchidism on the
right.
137
3.148
Figure 3.148. A close-up of the large

popliteal web. The dense fibrous cord in
the posterior portion of the popliteal
pterygium may contain the tibial nerve.
3.149
Figure 3.149. A posterior view of the

lower extremities of the same infant
shows the large popliteal pterygia
extending from the hips to the ankles.
There is also clubbing of both feet, a
common finding in this condition.
3.150
Figure 3.150. In the same infant there is

syndactyly of the toes in both feet. Note the
pyramidal form of the skin over the hallux
which is typically seen in this condition.
138
3.151
Figure 3.151. A close-up of the

genitalia of the same infant as
shown in Figure 3.150 shows the
divided scrotum with cryptorchidism on the right. In female
infants there may be hypoplastic
labia minora and the genitalia may
be ambiguous.
3.152
Figure 3.152. This female infant

with popliteal pterygium syndrome
presented with the filiform adhesions between the eyelids which are
seen in 20% of patients. Cleft lip
and palate are seen in 85% and pits
of the lower lip are seen in 60%.
The bands of tissue extending
between the jaws which are well
demonstrated in this patient are
noted in about 35%.
3.153
Figure 3.153. Close-up of the filiform adhesions between the eyelids

of the same infant.
139
3.154
Figure 3.154. The popliteal pterygium in the same infant is not nearly
as severe as in the previous example.
Note the abnormal digits.
3.155
Figure 3.155. Absence of the labia

majora is present in about 60% of
infants with popliteal pterygium
syndrome.
3.156
Figure 3.156. Prader-Willi syndrome presents in the neonate with
marked hypotonia, a weak cry, and
hypogonadism at birth. In PraderWilli syndrome the mother may note
decreased fetal activity, and there is
a breech presentation in about 30%
of cases. Although born at term, the
infants are usually small, weighing
less than 3000 g. There is a characteristic history of feeding difficulty
which may result in failure to thrive.
The condition is sporadic and there
is a preponderance of males. In
Prader-Willi syndrome, the karyotype is abnormal in about 50% of
cases (deletion 15q).
140
3.157
3.158
Figure 3.157. In this view of the same infant as in

Figure 3.156, in addition to the hypotonia, some of
the characteristic craniofacial features are apparent.
Note the almond-shaped, upslanting palpebral fissures and the prominent forehead.
Figure 3.158. There is marked hypotonia in this
infant with Prader-Willi syndrome in the prone
position. It is usually severe in early infancy, and
Moros reflex and tendon reflexes are decreased or
absent. Congenital dislocation of the hips is not
uncommon.
3.159
Figure 3.159. Marked hypotonia in this

infant with Prader-Willi syndrome when
the infant is held in the supine position.
141
3.160
3.161
Figure 3.161. In the same infant note the

cryptorchidism and a rudimentary scrotum.
Figure 3.160. Close-up of the face of an infant showing the characteristic craniofacial features. Note the
prominent forehead and a reduced biparietal diameter.
The eyes are almond shaped with upslanting palpebral
fissures. The ears are dysplastic and the mouth is fishlike with a triangular upper lip. Note the small hand.
The hands and feet may be small and remain small.
Clinodactyly and syndactyly may be present in PraderWilli syndrome.
Figure 3.162. In this term

infant with progeria (Hutch
inson-Gilford syndrome) there
was marked growth retardation
(birthweight 1800 g). The face
is small with a large head
(pseudohydrocephalus) and
there is a marked lack of subcutaneous tissue and prominence
of the knees. This is a condition in which there is pseudosenility with hypertension, cardiomegaly, and atherosclerosis
resulting in early death (at the
average age of 14 years).
3.162
142
3.163
3.164
Figure 3.163. A close-up of the face of the same infant

as shown in Figure 3.16 at age 6 weeks shows the small
face with large head (pseudohydrocephalus), frontal and
parietal bossing, hypotrichosis (scalp, eyebrows, and eyelashes), thin skin, prominent scalp veins, prominent
eyes, mid-face hypoplasia, and micrognathia. The nose
is thin and rather beaked.
Figure 3.164. Lateral view of the head and
face in the same infant. Note the pseudohydrocephalus, hypotrichosis, prominent scalp
veins, prominent eyes, small beak-like nose,
and micrognathia. Note the prominent buccal
pads in the cheek. These infants feed well and
growth is normal until about the first year of
life when it plateaus.
3.165
Figure 3.165. Riegers syndrome is an autosomal

dominant neural crest disorder in which there are abnormalities of the pituitary gland, teeth, and the mesenchymal structures of the eye. In this infant with
Riegers syndrome note the changes in the left eye.
The pupil is distorted by peripheral anterior synechiae
(adhesion of the iris to the cornea).
143
3.166
Figure 3.166. The same infant showing the changes

in the right eye. Note the polycoria (multiple pupils)
and peripheral anterior synechiae.
3.167
Figure 3.167. Patients with Riegers syndrome have

an unusually short umbilical cord which leaves a very
characteristic umbilicus as seen in the same affected
infant.
3.168
Figure 3.168. The father of the same infant

shows hypodontia of the teeth. He also had
ophthalmologic changes.
144
3.169

(pseudothalidomide syndrome) shows the
tetraphocomelia. There is no cleft lip or
palate, which would make the diagnosis
the pseudothalidomide syndrome rather
than Roberts syndrome. The limb malformations are symmetric and more severe in
the upper than in the lower limbs.
Compare this infant to an infant exposed
to maternal thalidomide in Volume I,
Figure 3.23.
3.170
Figure 3.170. This is a close-up view of the

right upper extremity of the infant. The
phocomelia has resulted in absence of
humeri, radii, and ulnae. In Roberts syndrome the malformed hands may have
hypoplastic or absent thumbs and there may
be abnormalities of the digits.
3.171
Figure 3.171. The left hand of the same infant showing the phocomelia with the abnormal hand and digits.
145
3.172
3.173
Figure 3.172. The lower extremities of the infant

show the less severe changes in that the femora, tibiae,
and fibulae are hypoplastic and the feet are abnormal.
Figure 3.173. This infant with RubensteinTaybi syndrome presented at term with a birthweight of 2700 g and a length of 48 cm. Note
the prominent forehead, hypertrichosis,
downslanting palpebral fissures, epicanthic
folds, long eyelashes, hypertelorism, broad
nasal bridge, a beaked nose with a nasal septum extending below the alae nasi, and
micrognathia. In addition to the findings
above, patients with Rubenstein-Taybi syndrome commonly have microcephaly, low-set
malformed ears and a high arched narrow
palate.
3.174
Figure 3.174. This figure shows the typical broad thumbs and
broad toes which are seen in all infants with Rubenstein-Taybi
syndrome. There may be shortening of thumbs and big toes.
Clinodactyly of the fifth finger and overlapping of toes are seen
in about 50% of these infants.
146
3.175
Figure 3.175. Broad thumbs

and broad toes in another
infant with Rubenstein-Taybi
syndrome. Note the typical
overlapping of toes.
3.176
Figure 3.176. Another view of the same infant with

the Rubenstein-Taybi syndrome showing the large
big toe and overlapping of toes.
3.177
Figure 3.177. This term baby
shows the typical findings of
Russell-Silver syndrome in that he
was unusually small for his gestational age (less than the 3rd percentile), small in stature, and had
pseudohydrocephalus in that the
head appeared to be disproportionately large for the small face. The
proximal extremities are relatively
short and the distal extremities are
long (disproportionate dwarfism).
Some of these infants may have
skeletal asymmetry which may involve the entire body (hemihypertrophy) or which may be limited to
involve only the skull or a limb.
147
3.178
Figure 3.178. Close-up of the face of the same

infant showing again the disproportion between the
large head and the small face which tapers to a narrow jaw giving rise to a triangular facies. The frontooccipital circumference is normal and the fontanelles are enlarged. Note the frontal bossing, prominent eyes, long eyelashes, and downturned angles
of the mouth (giving a carp-like appearance),
micrognathia, and posteriorly rotated ears.
A triangular facies is often the result of a disparity
between the growth of the cranium, paced by normal
brain growth, and the growth of the facial skeleton whose bones may share in an intrinsic growth
deficiency.
Figure 3.180. In another infant with the Russell-Silver

syndrome, note the pseudohydrocephalus, prominent eyes,
triangular facies, and carp-like mouth.
3.179
Figure 3.179. In the same infant note the cryptorchidism. Genital hypoplasia and hypogonadism
are commonly present in Russell-Silver syndrome.
3.180
148
3.181
3.182
Figure 3.181. Close-up view of the mouth of the same

infant as in Figure 3.180 showing the typical carp-like or
inverted V-shaped appearance of the mouth.
Figure 3.182. The same infant had a single

palmar crease and clinodactyly of the fifth finger, which are also common findings in RussellSilver syndrome.
3.183
Figure 3.183. In the Smith-Lemli-Opitz syndrome

the infants are small for their gestational age with a
mean birthweight of 2560 g at term, commonly present
as breech presentations, and have mental retardation.
This is a female infant, but male infants predominate.
There is microcephaly with moderate scaphocephaly,
bilateral ptosis, low-set ears, a broad nasal tip with
anteverted nostrils, and mild micrognathia. Other
findings that may occur are an antimongoloid slant and
epicanthic folds of the eyes.
149
3.184
3.185
Figure 3.185. The same infant with Smith-Lemli-Opitz

syndrome had a small cleft in the soft palate.
Figure 3.184. Lateral view of the face of the

same infant. Note the long eyelashes, the
ptosis of the eyelids, anteverted nostrils and
the mild micrognathia.
Figure 3.186. Note the hypoplastic genitalia. Males

have small penises and hypogonadism.
3.186
150
3.187
3.188
Figure 3.187. Another example of Smith-LemliOpitz syndrome in a male infant showing the typical appearance of the face. Note the microcephaly,
closed eyes associated with ptosis, inner epicanthic
folds, broad nasal tip with anteverted nostrils, and
micrognathia.
Figure 3.188. The same infant from the lateral

view showing the face and head. Note the microcephaly with a tendency to scaphocephaly,
low-set ears, ptosis, anteverted nostrils, and
micrognathia.
3.189
Figure 3.189. The hands of
the same infant. The figure
on the left shows a single
palmar crease on the right
hand and the figure on the
right shows a Sydney line on
the left hand. A Sydney line
is often reported as a single
palmar crease but note that
there are two separate transverse palmar creases which
are joined by another crease.
These palmar findings are
common in many normal
infants and are seen in many
syndromes.
151
3.190
Figure 3.190. Syndactyly of the second

and third toes is a common finding in
Smith-Lemli-Opitz syndrome, but may
occur in normal patients or in many other
syndromes.
3.191
Figure 3.191. This infant with Treacher-Collins syndrome (mandibulofacial dysostosis) shows the typical
findings of antimongoloid slanting palpebral fissures,
colobomas of the lateral part of the lower eyelids, deficient eyelashes, hypoplasia of the zygomatic arch, micrognathia, and malformed ears. The nose is prominent.
3.192
Figure 3.192. Closeup of the face of the

same infant showing
the antimongoloid
slant and colobomas
of the lower eyelids
which typically occur
at the junction of the
inner two-thirds and
outer third of the
lower eyelids. Note
the absence of eyebrows and eyelashes,
the prominent nose
and the hypoplasia of
the zygomatic bone.
152
3.193
3.194
Figure 3.194. The same infant when crying better

demonstrates the findings. Note the antimongoloid
slant, the prominent nose, and the micrognathia.
Infants with this syndrome may have a cleft of the
palate, particularly of the soft palate. A finding in
many of these infants is a projection of the scalp hair
onto the lateral cheek.
Figure 3.193. A less severe case of TreacherCollins syndrome. Note the unilateral macrostomia and the abnormal ear. Treacher-Collins
syndrome is a familial malformation involving
structures originating from the first branchial
arch and may have moderate expressivity.
3.195
Figure 3.195. A lateral view of the

same infant showing the slightly abnormal right ear with preauricular skin tags,
the prominent nose and micrognathia.
153
3.196
Figure 3.196. Lateral view of the same infant showing

the grossly abnormal ear on the left side with atresia
of the auditory canal, the antimongoloid slant,
prominent nose and micrognathia.
3.197
Figure 3.197. This infant with the VACTERL

syndrome exhibits the following: vertebral anomalies, imperforate anus, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb
defects. In cases where the acronym VATER is
used, the C for cardiac abnormalities, and the L
for limb defects are excluded, and the R stands
for renal and radial anomalies. This infant had a
tracheoesophageal fistula, duodenal atresia, and
anal stenosis. There was a double outlet left ventricle causing congestive failure, hydronephrosis,
ambiguous genitalia, and cryptorchidism. There
was sacral dysgenesis and hemivertebrae, absence
of the radii bilaterally, absence of tibiae bilaterally,
and severe clubfoot.
3.198
Figure 3.198. A posterior view

of the pelvis and lower extremities of the same infant. Note the
abnormal gluteal folds, as this
infant also had bilateral dislocation of the hips. Note the skin
dimples at the joints.
154
3.199
3.200
Figure 3.199. The right upper extremity of this

same infant shown in Figures 3.197 and 3.198 shows
the club hand due to the absence of the radius.
Figure 3.200. The left upper extremity of the

same infant shows the absence of the radius, resulting in a club hand. Also note the abnormal thumb.
3.201
Figure 3.201. This infant with the

VACTERL syndrome presented with
vertebral anomalies of the lower thoracic vertebrae, an esophageal atresia,
dextrocardia, imperforate anus, and
ambiguous genitalia. There were no
anomalies of the limbs. Note the
imperforate anus and ambiguous genitalia. Karyotype was normal XX. A
catheter placed in the single perineal
opening appeared in the colostomy.
This confirmed the presence of a
cloacal sac.
155
3.202
Figure 3.202. Radiograph of this infant

shows the air-filled blind esophageal sac. Note
that there is no communicating fistula, as the
abdomen is completely opaque due to lack of
air in the GI tract. There is abnormal segmentation of the distal thoracic vertebrae and
anomalies of the ribs.
Figure 3.204. The lateral view of the face of the same

infant shows the high forehead, flattened facies,
micrognathia, and low-set ears. There is brachycephaly
as the occiput is flat. In this infant the fontanelles were
wide open, and hepatosplenomegaly, albuminuria, and
ulnar deviation with a simian crease of the hand were
present.
3.203
Figure 3.203. Infants with Zellweger syndrome (cerebrohepatorenal syndrome) present with hypotonia and
typical craniofacial features, in addition to other finings.
In the close-up of the head of this infant note the high
prominent forehead and somewhat flattened facies,
hypertelorism, epicanthic folds, anteverted nares, and
micrognathia.
3.204
156
3.205
3.206
Figure 3.205. Stippling of the epiphyses and hyoid are

common in Zellweger syndrome. This radiograph of
the neck shows stippling at the hyoid bone.
Figure 3.206. Early punctate

mineralization of the patella is a
common finding, and note the
stippling at the knee joints and
ankles.
3.207
Figure 3.207. Radiographs of the upper

extremities of the same infant showing the
stippling at the elbows and wrists.
157
3.208
Figure 3.208. This infant with Zellweger syndrome had marked hypotonia and shows the typical
appearance of the head and face, the single palmar creases, and clinodactyly. There is commonly
ulnar deviation with simian creases of the hand. Brushfields spots also occur in infants with
Zellweger syndrome. Because of the hypotonia, craniofacial findings, Brushfields spots, and simian
creases, these infants often are mistaken for infants with trisomy 21.
Chapter 4
Chromosomal abnormalities are fairly common. They occur in about 1 in every 200 deliveries,
although many of these infants are phenotypically normal. In addition, 50% of all spontaneous
abortions involve a chromosomal abnormality. Nondisjunction, where an extra chromosome (or
part of a chromosome) is present (e.g., trisomy 21), is the most common cause of chromosomal
disorders. Translocation syndromes, where chromosomal material breaks off from one chromosome and translocates to another, may not have classic clinical findings and may be difficult to
diagnose. Usually infants with balanced translocations are only carriers and do not demonstrate
clinical manifestations, while unbalanced translocations result in clinical signs. A deletion occurs
when chromosomal material is missing from either the upper (p) or lower (q) arms of a chromosome (e.g., cri du chat syndrome with deletion of the upper short arm of chromosome 5 5p). An
abnormal number of X or Y chromosomes can also result in significant clinical syndromes (e.g.,
Turners syndrome with absence of one of the X chromosomes 45X0). Chromosomal analysis
should be considered for all stillbirths, newborns with multiple congenital anomalies, or to confirm a suspected chromosomal diagnosis.
159
160
4.1
Figure 4.1. In the syndrome caused by deletion

of the short arm of chromosome number 4 (4p
syndrome, Wolf-Hirschhorn syndrome), there is
marked prenatal growth deficiency and
decreased fetal activity. At birth the facial features are typical: microcephaly, a high forehead,
prominent glabella, and a wide nasal bridge with
nasal beaking (the Grecian helmet appearance
of the head). This infant also has craniofacial
asymmetry.
4.2
Figure 4.2. A frontal view of the same

infant shows the high forehead and a
prominent glabella. The eyebrows are
highly arched and sparse medially.
There is nasal beaking and epicanthic
folds with bilateral ptosis. There is a
short deep philtrum with a short upper
lip and a turned-down, fish-like mouth.
A cleft lip and/or palate occurs in
about 10% of these infants.
4.3
Figure 4.3. In the lateral view of the same infant

note the lobeless pinnae and micrognathia. The
external auditory canals are narrow.
161
4.4
Figure 4.4. This same infant with WolfHirschhorn syndrome had a posterior midline
scalp defect which is seen in about 10% of these
infants. He also had hypospadias and cryptorchidism, a finding frequently associated with
this syndrome.
Other findings in infants with this syndrome
include coloboma of the iris, simian crease,
hypoplastic dermal ridges, talipes equinovarus,
and cardiac anomalies. Radiologically there may
be fusion of the ribs and dislocation of the hips.
4.5
Figure 4.5. Deletion of the short arm of chromosome

number 5 (5p syndrome, cri du chat syndrome) is
present in this infant; his twin was normal. Note the
craniofacial disproportion, with microcephaly, round
face, dysplastic low-set ears, the downward (antimongoloid) slant of the palpebral fissures, hypertelorism,
and micrognathia. The typical cat cry (high-pitched
mewing cry) was present. The cat cry is due to a narrow
larynx, and occurs as a result of the cords being approximated anteriorly leaving a narrow opening posteriorly.
It is not present in all infants and disappears as the
infant grows.
4.6
Figure 4.6. The lateral view of the same infant shows

the low-set ears, flattened nose, and micrognathia.
162

4.8
4.7
Figure 4.8. Another infant with trisomy 8 shows the

dysplastic craniofacial features (short nose, broad nasal
bridge, prominent nares, wide philtrum, thin upper lip,
and low-set ears with thick helices).
Figure 4.7. Trisomy 8 syndrome is usually
a trisomy 8/normal mosaicism. Note the
dysmorphic craniofacial features, micrognathia, postural deformity of the hands,
cryptorchidism with bilateral inguinal
herniae, and absence of the patellae.
4.9
Figure 4.9. A close-up

view of the ears of the
same infant demonstrates the thick helices.
163
4.10
Figure 4.10. The hands of the same

infant with trisomy 8 show the shortened hallux, camptodactyly, and deep
flexion creases of the palms. Deep furrows are found on both the palms of
the hand and soles of the feet (these
regress with increasing age).
4.11
Figure 4.11. Congenital absence of the patellae is

another finding in the trisomy 8 syndrome. In addition to the findings shown here in trisomy 8 other
common findings include cleft palate, single palmar
crease, and contractures of large joints.
Figure 4.12. In the trisomy 13 syndrome (Pataus syndrome) there is

microcephaly, a sloping forehead,
grossly abnormal ears, micrognathia,
and polydactyly. In this infant, in addition to these findings, there was a scalp
defect and atresia of the external auditory canals. In trisomy 13 syndrome
other findings include microphthalmia,
anophthalmia, hypo- or hypertelorism,
depressed nasal bridge, bilateral cleft lip
and/or palate, congenital heart disease,
omphalocele, large umbilical hernia,
renal anomalies, flexion and overlapping of the fingers, single palmar crease,
and a prominent heel giving rise to
rocker-bottom feet. If the infant sur-
4.12
164
4.13
Figure 4.13. Trisomy 13 in another infant showing

microcephaly, microtia with low-set ears, and
micrognathia. This same infant had bilateral glaucoma.
4.14
Figure 4.14. A close-up view of the ears of

the same infant showing the bilateral
microtia. Ear abnormalities may be minimal or there may be total absence of the
external auditory canal.
4.15
Figure 4.15. A common finding in trisomy 13 is bilateral cleft

lip and palate. In this infant there is microcephaly, hypotelorism,
the eyes are microphthalmic, and there is a receding forehead.
On further study the infant had an alobar holoprosencephaly. In
trisomy 13, central nervous system abnormalities are found in
50% or more of infants and, hence, one should check for a holoprosencephaly defect.
165
4.16
Figure 4.16. The same infant also had an

omphalocele. The finding of cleft lip and palate
with an omphalocele or large umbilical hernia
should alert one to the possibility of the diagnosis of trisomy 13.
4.17
Figure 4.17. Median cleft syndrome may be associated with chromosomal defects. This infant with trisomy 13 had cyclops with anophthalmia. There is no
proboscis present. There was arhinencephaly and
alobar holoprosencephaly on CT scan.
4.18
Figure 4.18. Another common finding in trisomy 13 is a midline

scalp defect, which is most common in the parieto-occipital
area. This infant also had abnormal ears, micrognathia, and
polydactyly.
166
4.19
4.20
Figure 4.19. Polydactyly of the hands and feet occur frequently in infants with trisomy 13.
4.21
Figure 4.20. In this infant with trigonocephaly, hypotelorism, patchy alopecia, and
eleven ribs, the diagnosis was that of a ring D
chromosome defect (karyotype was performed in the pre-banding era).
Trigonocephaly is associated with premature
fusion of the metopic suture and may occur
in chromosomal anomalies and in median
cleft syndrome, but also occurs in normal
infants.
Figure 4.21. This view better demonstrates the

trigonocephaly and the patchy alopecia.
167
4.22
Figure 4.22. Severe intrauterine growth retardation (birthweight 1590 g at term) was noted in
this infant with the typical findings of trisomy 18
(Edwards syndrome). Note the low-set, poorly
developed ears, micrognathia, and the typical
overlapping position of the fingers. In trisomy 18
there is a preponderance of three females to one
male infant. Other findings in trisomy 18 include
prominent occiput, microcephaly, short sternum,
congenital heart disease, abnormal genitalia, and
renal anomalies (horseshoe kidney, polycystic
kidneys, etc.). If the infant survives, there is
severe mental retardation.
4.23
Figure 4.23. A close-up view of the face and skull in

the same infant shows the characteristic prominent
occiput, low-set abnormal ears with atresia of the
external auditory canals (the ears often appear
cupped), and micrognathia. The typical flexion deformity of the fingers can also be seen.
4.24
Figure 4.24. Trisomy 18 in another infant shows the

intrauterine growth retardation, narrow bifrontal
diameter, low-set ears, and micrognathia. Note the
typical clenched hands with flexion deformities of the
fingers.
168
4.25
Figure 4.25. The lateral view of the same

infant as in Fig. 4.24 shows the prominent
occiput, low-set ears with a large pinna, and
micrognathia.
4.26
Figure 4.26. The right ear in this infant

demonstrates the characteristic cupping
(tulip-shaped) deformity noted in infants
with trisomy 18.
4.27
Figure 4.27. Coloboma of the left eye of

this infant with trisomy 18. Other ophthalmologic findings in trisomy 18 include short
palpebral fissures, hypoplasia of the orbital
ridges, and corneal opacities.
169
4.28
Figure 4.28. In trisomy 18, abnormalities of

the genitalia are common. This male infant
has cryptorchidism, and in female infants
there may be hypoplasia of the labia majora
with a prominent clitoris.
4.29
Figure 4.29. The appearance of this hand is very

typical of infants with trisomy 18, occurring in about
50% of affected infants. Note the clenched hand with
a tendency for the index finger to overlap the third and
for the fifth finger to overlap the fourth. At times these
fingers are extended, giving the appearance of the sign
for I love you in American sign language. Infants
with trisomy 18 also commonly have hypoplasia of the
nails on both the fingers (especially the fifth finger)
and the toes.
4.30
Figure 4.30. Another typical

example of the hands in an infant
with trisomy 18.
170
4.31
Figure 4.31. Note the single palmar

crease in this infant with trisomy 18. A
single palmar crease is a common finding
in normal infants and is also noted in
numerous syndromes. Note the lack of
development of other dermal creases,
indicating that there was a lack of fetal
movement from early in gestation. In this
infant there is an absence of finger creases
on all fingers. In trisomy 18 it is not
uncommon to have an absence of distal
creases on the fifth finger (clinodactyly)
and less commonly on the fourth and
third fingers.
4.32
Figure 4.32. Note the short big
toes and hypoplastic nails which
are typically seen in trisomy 18.
The short big toes are frequently
dorsiflexed. There is also syndactyly of the second and third
toes bilaterally in this infant,
which is a common finding in normal infants and in infants with
other pathologies, and is also
reported in trisomy 18. Infants
with trisomy 18 may have talipes
equinovarus or rocker-bottom
feet.
4.33
Figure 4.33. This infant did not

have the typical clinical appearance of an infant with trisomy 18,
but the radiographic findings of
gracile ribs and antimongoloid
pelvis were diagnostic. The diagnosis was confirmed by karyotype.
Note the central polydactyly of
the left foot and syndactyly of the
right foot. Central polydactyly is
an uncommon finding in normal
infants and should alert one to the
possible diagnosis of a chromosomal disorder.
171
4.34
4.35
Figure 4.35. The chest radiograph of the same

infant shows the gracile appearance of the ribs
and the long slender clavicles, giving rise to
the so-called bicycle handle clavicles. This
radiologic appearance should always alert one
to the possible diagnosis of trisomy 18.
Figure 4.34. This full-body radiograph illustrates the

typical findings in trisomy 18. Note the gracile (fine,
delicate) ribs and the antimongoloid (very vertical)
appearance of the pelvis. The infant also had cardiac
enlargement which was associated with congenital
heart disease (patent ductus arteriosus).
Figure 4.36. The sternum is short in trisomy 18, and

sternal ossification centers are absent or decreased in
number. In this lateral radiograph of the chest in
another infant with trisomy 18, there are no sternal
ossification centers.
4.36
172
4.37
4.38
Figure 4.37. Radiograph of the pelvis in the same

infant as shown in Figure 4.36 with trisomy 18 demonstrates the antimongoloid configuration. The pelvis is
small, the iliac crest is narrow, and there are large
acetabular angles.
Figure 4.38. A pathologic specimen of a

horseshoe kidney from an infant with trisomy 18. Note the hydroureter and
hydronephrosis on the left. Horseshoe kidneys, ectopic kidneys, double ureters, and
other renal anomalies are common in trisomy 18.
4.39
Figure 4.39. This infant with a median cleft, hypotelorism, and

holoprosencephaly had an 18p chromosomal defect. The most
consistent features of the 18p defect are ptosis, epicanthal folds,
hypotelorism, rounded facies, and large protruding ears. In some
cases, holoprosencephaly may be present. The hands and feet are
relatively small. If the infant survives, there is severe mental retardation.
173
4.40
Figure 4.40. The typical appearance of an infant

with trisomy 21 (Down syndrome). Note the marked
hypotonia, flat facies, single palmar crease and separation of the first and second toes. The abdominal
surgery was for the common finding of duodenal
atresia. There is a burn at the left knee which
occurred during surgery. The incidence of trisomy
21 is 1 in 700 newborns. The typical findings in trisomy 21 include hypotonia, poor Moros reflex,
hyperflexibility of joints, excess skin at the back of
the neck, a flat facial profile, slanted palpebral fissures, dysplasia of the pelvis, and hand and feet
abnormalities.
4.41
Figure 4.41. The typical flat facies (glattegesicht) in an infant with trisomy 21 is due to a
lack of the orbital ridges, a flat nose, and micrognathia, which together result in a lack of profile.
Also note that there is some excess skin at the
nape of the neck.
Figure 4.42. In trisomy 21 the head is small and round (brachycephaly) which occurs as a result of the flat occiput and the flat facies
(compare with the prominent occiput seen in trisomy 18 [Figure
4.25]). There is a mongoloid appearance to the eyes due to the slanting palpebral fissures, the ears are low set, the nose is flat, and there is
micrognathia.
4.42
174
4.43
Figure 4.43. Trisomy 21 in another infant showing

the typical flat facial features, flat occiput, and webbing
of the neck. There was also mild microcephaly.
4.44
Figure 4.44. A view of the same infants head shows

the brachycephaly which results from the flat forehead
and flat occiput. The sutures were normal.
4.45
Figure 4.45. A close-up of the face of an infant

with trisomy 21 shows the characteristic mongolian slant of the eyes, the hypertelorism, and the
flat nose. Epicanthal folds, a common finding in
Down syndrome, may be less obvious in the
neonate than later in life. Epicanthal folds, which
represent a vertical fold of skin on either side of
the nose sometimes covering the inner canthus,
are seen as a facial characteristic in normal infants
as well as in syndromes such as Down syndrome. In
infants with Down syndrome the tongue may protrude, giving rise to the impression that macroglossia is present. In Down syndrome there is a short
palate and, hence, this is a relative macroglossia.
175
4.46
Figure 4.46. Webbing of the neck is a common finding in Down

syndrome. This male infant with marked webbing of the neck
and flat facies had the typical karyotype of trisomy 21. Because of
the webbing, the neck may appear to be short.
4.47
Figure 4.47. Posterior view of the same infant with trisomy 21

shows the marked webbing of the neck. Note that the hairline is
high in contrast to Turners syndrome where the hairline is low
and the hair may be in whorls.
4.48
Figure 4.48. Down syndrome in a premature infant

(gestational age of 33 weeks) with the typical karyotype of trisomy 21. The clinical diagnosis of Down
syndrome may be difficult in small premature infants
because the typical findings such as epicanthal folds,
etc., are not as obvious as they are in the term infant.
176
4.49
Figure 4.49. Marked hypotonia in an infant with

Down syndrome. Hypotonia is present in over 80%
of infants with Down syndrome. Also note the separation of the first and second toes.
4.50
Figure 4.50. Brushfields spots in the eyes of an

infant with trisomy 21. These are aggregates of stromal fibers which form a ring around the iris near the
limbus. They tend to disappear with age. Brushfields
spots may be seen in normal blue-eyed infants, but if
present in infants with brown eyes they are pathologic. Brushfields spots are also seen in infants with
Zellweger syndrome.
4.51
Figure 4.51. The typical square (boxy) appearance

of the ear in an infant with trisomy 21. Abnormalities
of the ears are noted in at least 60% of infants with
Down syndrome. Typically they are boxy, but they may
be low set and small with overlapping of the helix and
a prominent anthelix.
177
4.52
Figure 4.52. The typical short stubby fingers, single

palmar (simian) crease, and clinodactyly of digit five
on the right hand of an infant with trisomy 21. The
short stubby fingers resulting in a short broad hand are
noted in about 70% of infants with trisomy 21. A
single palmar crease may be a normal variant occurring
on both hands in 1 to 2% of the population and on one
hand in 6%. Clinodactyly is incurving of the finger due
to an absent or hypoplastic middle phalanx. Clinodactyly of the fifth digit is also seen as a normal variant
and as a finding in many other syndromes.
4.53
Figure 4.53. This infant with trisomy 21 has a single

palmar crease. There is no clinodactyly but there is
hypoplasia of the middle phalanx of the fifth finger as
noted by the decreased distance between the finger
creases. The single palmar crease is seen in about 45%
of infants with trisomy 21 and is a finding in many
other syndromes.
4.54
Figure 4.54. This infant with trisomy 21 has clinodactyly

but normal palmar creases. Clinodactyly with an absent or
hypoplastic middle phalanx of the fifth finger is present in
about 50% of infants with trisomy 21.
178

4.56
4.55
Figure 4.55. The gap between the first and second toes
(sandal or thong sign) is a typical finding in trisomy
21. The feet are broad and short. The plantar surfaces
are creased with a deep long furrow (ape-line) between
the first and second toes.
Figure 4.56. A close-up view of the broad
short foot of an infant with trisomy 21
shows the marked separation of the first and
second toes and the deep furrows on the
sole.
4.57
Figure 4.57. Total radiograph of an infant with trisomy 21 shows

the long narrow chest cage with downslanting ribs due to hypotonia. Any infant who is hypotonic has this appearance of the chest
cage. The finding of eleven pairs of ribs, as in this infant, is common in Down syndrome but also may occur as a finding in normal
infants. The pelvis is a typical mongoloid pelvis. The infant also
had congenital heart disease (the most common defect being an
endocardial cushion defect).
179
4.58
Figure 4.58. Lateral chest radiograph in another infant

with trisomy 21 shows the increased number of sternal ossification centers. Compare this with trisomy 18 where ossification centers are decreased in number or absent (see
Figure 4.36). Note that the ribs are normal in appearance as
compared to the gracile delicate ribs seen in infants with trisomy 18.
4.59
Figure 4.59. Radiograph of the typical

mongoloid pelvis seen in infants with trisomy 21. Note the marked lateral flaring of
the ilia giving rise to the so-called Mickey
Mouse pelvis. There is a shallow acetabular
angle. Compare this with the antimongoloid pelvis noted in infants with trisomy
18 (see Figure 4.37).
4.60
Figure 4.60. Infants with Turners syndrome (XO syndrome) are phenotypically
female although they have one of the pairs of X chromosomes missing. This term
infant is short (length 43 cm) and demonstrates the short neck, shield-like chest
with widely spaced nipples, and lymphedema, especially of the feet. Note also the
single palmar crease on the right hand. Infants with Turners syndrome may be small
for gestational age.
180
4.61
4.62
Figure 4.61. In another example of

Turners syndrome in a term infant
(length 44 cm) note the marked lymphedema, especially of the lower extremities. Other findings in Turners syndrome
include a low posterior hairline with the
appearance of a short neck, webbing of
the neck, congenital heart disease (especially coarctation of the aorta), pigmented nevi, and skeletal abnormalities.
Figure 4.62. The same infant shows the marked lymphedema in the left hand. Transient congenital lymphedema with residual puffiness is noted over the dorsum of
the hands and feet in more than 80% of infants with
Turners syndrome.
4.63
Figure 4.63. Note the

hypoplastic nails in the same
infant with Turners syndrome. Hypoplastic finger and
toe nails are commonly noted
in infants with Turners syndrome in that the nails are
narrow, hyperconvex, and
may be deep set.
181
4.64
4.65
Figure 4.64. Note the marked lymphedema of both legs

and feet in the same infant with Turners syndrome. The
marked lymphedema in Turners syndrome is a pitting
edema. Compare this with congenital lymphedema
(Milroys disease) where the edema is non-pitting.
Figure 4.65. There is marked webbing of

the neck in this infant with Turners syndrome. Note the low posterior hairline.
Compare this with the webbing of the neck
and high hairline in trisomy 21 (see Figure
4.47). The infant also had congenital heart
disease (coarctation of the aorta).
4.66
Figure 4.66. The marked webbing of the neck is again noted in

this same infant with Turner syndrome. This results in the
appearance of a shortened neck. The webbing of the neck occurs
as a result of redundant skin.
A short neck may result from absence, malformation or coalescence of one or more cervical vertebrae, often giving the impression that the head is resting directly on the shoulders
(Klippel-Feil syndrome, Jarcho-Levin syndrome). Neck webbing
or high placement of the scapulae can give a similar appearance
(Turners syndrome, Down syndrome, cleidocranial dysostosis).
182
4.67
Figure 4.67. Fetal Turners syndrome in an aborted fetus. Diagnosis was

made prenatally by ultrasound and confirmed by karyotype. Note the large
nuchal cystic hygromas of the neck and moderate hydrops of the limbs and
body wall. This would explain the etiology of the redundant neck skin of
these infants at birth. (R. Carpenter)
4.68
Figure 4.68. This infant with Turners syndrome has the typical broad chest (shield-like
chest) with widely spaced nipples. The nipples
may be hypoplastic and/or inverted.
4.69
Figure 4.69. In Noonans syndrome (Turner

phenotype in the male) the typical findings are
similar to those seen in Turners syndrome.
The infants are short in stature, have webbing
of the neck, widely spaced nipples, lymphedema, and congenital heart disease (especially pulmonic stenosis). In this male infant
with Noonans syndrome note the shield-like
chest and widely spaced nipples.
183
4.70
Figure 4.70. The same infant has the

typical appearance of a short neck,
redundant skin, and low posterior hairline.
4.71
Figure 4.71. Lymphedema of the

dorsum of the foot in the same
infant with Noonans syndrome.
Index
Abdomen, 83, 85, 95-98, 155
Acheiria, 18
Achondroplasia, 53-56
Acrocephalopolysyndactyly. See Carpenters syndrome
Acrocephalosyndactyly. See Aperts syndrome
Acromelic shortening, 53
Agenesis, 5-7, 10
Alopecia, 166
Amelia, 10-12
Amyotonia congenita. See Oppenheims disease
Anal atresia, 8
Anisospondylic camptomicromelic dwarfism, 64-65
Antimongoloid configuration, 171-172
Aperts syndrome, 24, 42-44
Aplasia, 11, 60
Arachnodactyly, 82
Arthrogryposis, 4-6, 21, 50-52, 108
Asphyxiating thoracic dystrophy. See Jeunes syndrome
Atresia, 8, 154, 163
Beckwith-Wiedemann syndrome, 32, 88-89
Bifid big toes, 26, 45
Bilateral cleft lip and palate, 94, 164-165
Bilateral clubfoot, 38-39, 51, 106, 113, 129, 135, 170
Brachmann-de Lange syndrome. See Cornelia de Langes syndrome
Brachycephaly, 173
Brachydactyly, 19-20, 67, 84, 126-127
Brachysyndactyly, 133-134
Breast, 132
Broad toes, 44, 145-146
Brushfields spots, 157, 176
Buttock(s), 135
Clavicle(s), 60, 62, 73, 85, 130, 171

Cleft lip and palate, 64, 103, 126, 149, 152
bilateral, 94, 164-165
unilateral, 136
Cleidocranial dysostosis, 59, 61-62, 181
Cleidocranial dysplasia, 59-60
Clinodactyly, 47, 57, 126-127, 141, 148, 157, 170, 177
Clitoromegaly, 105
Clubfoot, 38-39, 51, 106, 113, 129, 135, 137, 153, 170
Club hand, 15-16, 154
COFS syndrome. See Pena-Shokeir phenotype (type II)
Coloboma, 168
Congenital curly toes, 46, 122
Congenital heart disease, 171, 180-182
Congenital hip dislocation, 1, 33-34
Congenital hypertrophy, 32
Congenital hypophosphatasia, 70-72
Congenital lymphedema. See Milroys disease
Congenital scoliosis, 4
Conradi-Hnermann syndrome, 53, 56, 59
Cornea, 119
Cornelia de Langes syndrome, 19, 91-93
Cortical thumb. See Palmar adduction
Coumadin embryopathy. See Fetal warfarin syndrome
Cranial nerve, 135
Cranio-carpotarsal dystrophy. See Freeman-Sheldon syndrome
Cranium, 147
Cri du chat syndrome, 159, 161
Cryptophthalmos syndrome. See Frasers syndrome
Cryptorchidism, 97, 120, 130, 136, 138, 141, 147, 161, 169
Curly toes, 46, 122
Cutaneous syndactyly, 44, 105, 175, 180-181
Cutis hyperelastica. See Ehlers-Danlos syndrome
Caffeys syndrome, 89-90

Calcification, 70
Camptodactyly, 20-21, 128, 130-131
Camptomelic dysplasia, 56-58
Camptomicromelia, 64-65
Cardiac limb syndrome. See Holt-Oram syndrome
Carpenters syndrome, 22, 24, 44
Cataracts, 119
CATCH 22 syndrome, 94
Cat cry, 161
Caudal regression syndrome, 4-7, 35
Cerebro-hepato-renal syndrome. See Zellweger syndrome
Cerebrooculofacioskeletal (COFS) syndrome. See Pena-Shokeir
phenotype (type II)
CHARGE association, 91
Chest, 2, 12, 133, 135-136
chromosomal disorders and, 171, 178-179, 182
in dwarfism, 60, 65, 69, 82, 85, 100
Chondrodystrophia calcificans congenita, 59
Chondroectodermal dysplasia. See Ellis-van Creveld syndrome
Chromosomal disorders, 87, 159-184
Deformations, 87
Diabetic mother, 4, 7, 9, 42
Diastrophic dysplasia, 63
DiGeorge malformation syndrome, 93-94
Dimples, 5, 16, 36, 52, 153
Disruptions, 87
Donohues syndrome, 117-118
Down syndrome, 47, 157, 159, 173-179, 181
Dwarfism, 53-86
achondroplasia, 53-56
anisospondylic camptomicromelic, 64-65
mesomelic, 53, 100
Seckels bird-healed, 80-81
short-limbed, 64-65, 78, 83, 85, 122
Dyscephaly, 109-110
Dysencephalia splanchnocystica. See Meckel-Gruber syndrome
Dysostosis, 151-153
acrofacial, 123-124
cleidocranial, 59, 61-62, 181
Dysplasia, 100-101, 107-108, 122, 181
camptomelic, 56-58
185
cleidocranial, 59-60
diastrophic, 63
in dwarfism, 53, 66-74, 81-86
EEC syndrome, 94
Ellis-van Creveld syndrome, 22, 25, 66-69
metatropic, 74
radial, 15
thanatophoric, 83-86
Dyssegmental dwarfism. See Anisospondylic camptomicromelic
dwarfism
Dystrophy, 72-73, 106
myotonic, 39, 130
Eagle-Barrett syndrome, 95-98
Ear(s), 104, 113, 124, 128, 152-153
in CHARGE association, 91
lobe, 88-89
in Rubenstein-Taybi syndrome, 145
with trisomy 8, 162
with trisomy 13, 164
with trisomy 18, 167-168
with trisomy 21, 176
Ectrodactyly. See Lobster-claw deformity
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome, 94
Ectromelia, 11-12
Edwards syndrome, 42, 130, 167-173, 179
EEC syndrome. See Ectrodactyly-ectodermal dysplasia-clefting
(EEC) syndrome
Ehlers-Danlos syndrome, 48, 98-99
Ellis-van Creveld syndrome, 22, 25, 66-69
EMG syndrome. See Beckwith-Wiedemann syndrome
Encephalocele, 122-123
Epicanthal folds, 10, 119, 128, 174
Esophagus, 154-155
Exomphalos-macroglossia-gigantism (EMG) syndrome. See
Beckwith-Wiedemann syndrome
External auditory canals, 163-164, 167
Eyebrows, 124
Eyelashes, 149
Eyelids, 138, 149, 151
Eye(s), 119, 142-143, 148, 168, 176
Face, 60-61, 106, 118, 126, 128, 147, 149, 155
Facioauriculovertebral spectrum. See Goldenhars syndrome
Fanconis syndrome, 15-16, 26
Feet, 38-47, 95, 121, 137, 145, 183
in dwarfism, 38-47
rocker-bottom, 39-40, 101, 129-130, 132, 163, 170
Foot. See also Clubfoot; Sole(s); Toe(s)
Femoral hypoplasia syndrome, 53, 101-104
Femur, 34, 53, 55, 77
Fetal akinesia sequence. See Pena-Shokeir phenotype (type I)
Fetal face syndrome. See Robinows syndrome
Fetal warfarin syndrome, 59
Fibula, 125
Finger(s), 19-32, 48-50, 82, 105, 121, 126-128, 148, 167, 169170, 177
Floating thumb. See Pouce flottant
Foot. See Clubfoot; Feet
Forearm(s), 53, 70, 89
Forehead, 113-114, 160, 174
Franois dyscephaly. See Hallermann-Streiff syndrome
Frasers syndrome, 104-105
Freeman-Sheldon syndrome, 106
Genitalia, 147, 149, 169
Gestational age, 148, 179
Goldenhars syndrome, 107-108
Growth arrest lines, 3
Hair, 130-131, 175
Hairline, 175, 180
Hallermann-Streiff syndrome, 109-110
Hand(s), 27-32, 133-134, 144
acheiria and microcheiria of, 18
club, 15-16, 154
in Ellis-van Creveld syndrome, 69
in Larsens syndrome, 115-116
palmar crease, 47-50, 57, 84, 148, 150, 170, 173, 177, 179
See also Finger(s); Thumb(s)
Head, 113-114, 125, 155, 160, 173, 174
Heart disease, 171, 180-182
Hemicaudal dysplasia, 6
Hemihypertrophy, 32
Hemimelia, 14
Hemivertebrae, 3
Hip(s), 1, 13, 33-34, 117, 135, 140
Hirsutism, 130-131
Hitchhiker thumb, 26, 63
Holoprosencephaly, 172
Holt-Oram syndrome, 17, 26
Horseshoe kidney, 172
Hutchinson-Gilford syndrome, 141-142
Hydrocephalus, 125
Hypertrophy, 32, 46, 113
Hypochondroplasia syndrome, 54
Hypogonadism, 147, 149
Hypokinesia sequence. See Pena-Shokeir phenotype (type I)
Hypophosphatasia, 70-72
Hypoplasia, 18, 35, 47
femoral, 53, 101-103
genital, 147
labia majora, 169
nails and, 25-26, 67, 115, 170, 180
nipples and, 182
pulmonary, 6, 127
Hypotelorism, 166, 172
Hypothyroidism, 3, 122
Hypotonia, 119, 139-140, 155, 157, 176, 178
186
Identical twins. See Monozygous twins

Infantile cortical hyperostosis. See Caffeys syndrome
Infantile spinal atrophy. See Werdnig-Hoffmann disease
Intercalary defects, 13-52
Intrauterine growth retardation, 167-168
Jarcho-Levin syndrome, 81-82, 181
Jaw(s), 68, 89-90, 138
Jeunes syndrome, 72-73
Kidney(s), 99, 122-123, 172
Klippel-Feil syndrome, 110-112, 181
Klippel-Trnaunay syndrome, 32
Knee(s), 52, 116
Labia majora, 139, 169
Langer-Giedion syndrome, 112-113
Larsens syndrome, 25, 44, 48-49, 113-121
Leg(s), 34, 70
Leprechaunism. See Donohues syndrome
Limb(s), 11, 13-14
See also Arm(s); Leg(s)
Lip(s), 64, 68, 94, 103, 136, 164-165
Lobster-claw deformity, 30-31, 40, 94-95
Lower extremities, 4-8, 10-13, 35, 51, 90, 101-103, 125
in dwarfism, 55, 66-67, 71, 74, 86
Lowe syndrome, 119-120
Lumbosacral agenesis, 5-6
Lymphedema, 180-181, 183
Macrodactyly, 29-30
Macrosyndactyly, 30, 46-47
Mandibulofacial dysostosis. See Treacher-Collins syndrome
Marfan syndrome, 28, 120-122
Meckel-Gruber syndrome, 122-123
Median cleft syndrome, 165-166
Mermaid fetus. See Sirenomelia
Mesomelic dwarfism, 53, 100
Mesomelic dysplasia. See Robinows syndrome
Metatropic dysplasia, 74
Mickey Mouse pelvis, 179
Microcephaly, 148, 150, 163-164, 167, 174
Microcheiria, 18-19
Micrognathia, 167, 173
Microsyndactyly, 40
Milroys disease, 181
Mbius syndrome, 134-135
Monozygous twins, 41, 77-78
Moro reflex, 140, 173
Mouth, 147-148
See also Lip(s)
Musculoskeletal system, 1-25
Myotonic dystrophy, 39, 130
Nagers acrofacial dysostosis syndrome, 123-124
Nails, 25, 67, 115, 170, 180
Neck, 59, 117, 156, 175, 181-183

Neurofibromatosis, 32
Nievergelt syndrome, 36
Nipple(s), 132, 182
Non-chromosomal syndromes, 87-158
Nondisjunction, 159
Noonans syndrome, 182-183
Nose, 112, 173
Occiput, 167, 173-174
Octadactyly, 37
Oculoauriculovertebral dysplasia. See Goldenhars syndrome
Oculocerebrorenal syndrome. See Lowe syndrome
Oculomandibulofacial syndrome. See Hallermann-Streiff syndrome
Oligohydramnios, 4, 7, 9-10, 22
Omphalocele, 165
Oppenheims disease, 39, 50
Orofaciodigital syndrome, 125-127
Osteogenesis imperfecta, 75-78
Osteoporosis, 71
Overlapping toes. See Congenital curly toes
Palate, 64, 94, 103, 110, 126, 136, 145, 149, 152, 164-165
Palmar adduction, 28
Palmar crease, 47-50, 57, 84, 148, 150, 170, 173, 177, 179
Pancytopenia, 15
Pataus syndrome, 163-166
Patchy alopecia, 166
Patent ductus arteriosus. See Congenital heart disease
Pelvis, 62, 73, 172, 179
Pena-Shokeir phenotype (type I), 50, 127-130
Pena-Shokeir phenotype (type II), 130-132
Pes equinovarus, 37
Phalanx, 47
Phocomelia, 13-14, 144
Polands anomaly, 33, 38-39, 132-135
Polydactyly, 66-69, 79, 122
central of foot, 170
hand, 21-23
postaxial, 22-23, 68
toe, 26, 41-42, 45, 68
with trisomy 13, 165-166
Polysyndactyly, 24-25, 44
Popliteal pterygium syndrome, 136-139
Popliteal web syndrome. See Popliteal pterygium syndrome
Position-of-comfort anomalies, 133-134
Potter facies, 7, 9-10
Pouce flottant, 27
Prader-Willi syndrome, 139-141
Prune belly syndrome. See Eagle-Barrett syndrome
Pseudohydrocephalus, 142, 146-147
Pseudothalidomide syndrome. See Roberts syndrome
Pulmonary hypoplasia, 6, 127
Rachischisis, 3
187
Radial aplasia, 11
Radial dysplasia, 15
Renal system, 7, 10, 99
Respiratory insufficiency, 56, 70
Rhizomelic dwarfism. See Achondroplasia
Rib(s), 2, 130, 171, 179
Riegers syndrome, 142-143
Roberts syndrome, 144-145
Robinows syndrome, 53, 100-101
Rocker-bottom feet, 39-40, 101, 129-130, 132, 163, 170
Rubenstein-Taybi syndrome, 25, 44
Russell-Silver syndrome, 32, 146-148
Sacral agenesis, 7
Saldino-Noonan syndrome, 78-79
Scalp, 163
edema, 59
midline defect, 161, 165
Scoliosis, 4, 8
Seckels bird-headed dwarfism, 80-81
Septadactyly, 37
SGA. See Small for gestational age
Short-limbed dwarfism, 64-65, 78, 83, 85, 122
Shoulder, 59-60
Sidney line, 49
Simian crease, 49, 155, 157, 177
Sirenomelia, 7-9
Skeletal deficiencies, 11-13
Skin
dimples, 5, 16, 36, 153
Skull, 55, 61-63, 78-79, 81
with congenital hyophosphatasia, 71-72
with metatropic dysplasia, 74
with osteogenesis imperfecta, 75-76
Small for gestational age (SGA), 148, 179
Smith-Lemli-Opitz syndrome, 42, 148-151
Sole(s), 95, 178
Spine, 2
Split hand/split foot deformity. See Lobster-claw deformity
Spondylothoracic dysplasia. See Jarcho-Levin syndrome
Sternum, 171
Stippling, 156
Sydney line, 49, 150
Symphalangism, 43
Syndactyly, 141
cutaneous, 105, 175, 180-181
hand, 24, 126-127
toe, 42-44, 93, 137, 151
Talipes equinovarus. See Bilateral clubfoot
Tapering digits. See Arachnodactyly
TAR syndrome. See Thrombocytopenia absent radius (TAR)
syndrome
Teeth, 68, 142-143
Thalidomide syndrome, 144
Thanatophoric dysplasia, 83-86

Thorax, 83, 85
Thrombocytopenia, 16
Thrombocytopenia absent radius (TAR) syndrome, 15
Thumb(s), 18, 26-30, 121, 124-125
cortical, 28
with Fanconis syndrome, 15-16
hitchhiker, 26, 63
with Holt-Oram syndrome, 17
with Larsens syndrome, 25, 115
pouce flottant, 27
with Rubenstein-Taybi syndrome, 145-146
trigger, 29
Tibia, 11
Tibia reduction-polydactyly syndrome, 36-37
Toe(s), 37, 40-47, 105-106, 127
bifid, 26, 45
broad, 25, 44, 145-146
congenital curly, 46, 122
and Down syndrome, 176
Larsens syndrome, 114-115
polydactyly, 26, 41-42, 45, 68
syndactyly, 42-44, 93, 137, 151
and trisomy 18, 169-170
and trisomy 21, 173, 178
Translocation syndromes, 159
Treacher-Collins syndrome, 124, 151-153
Triad syndrome. See Eagle-Barrett syndrome
Trigger fingers, 29
Trigonocephaly, 166
Trisomy 8, 36, 162-163
Trisomy 13. See Pataus syndrome
Trisomy 18. See Edwards syndrome
Trisomy 21. See Down syndrome
Turners syndrome, 159, 175, 179-182
Ultrasound, 182
Umbilical cord, short, 143
Unilateral cleft lip and palate, 136
Upper extremities, 11-12, 14, 16, 32
in dwarfism, 54, 66, 71, 79, 86
VACTERL syndrome, 153-154
VATER syndrome, 3, 153
Warfarin, 59
Webbing. See Cutaneous syndactyly
Werdnig-Hoffmann disease, 49
Whistling face syndrome. See Freeman-Sheldon syndrome
Wilms tumor, 32
Wolf-Hirschhorn syndrome, 160-161
XO syndrome. See Turners syndrome
Zellweger syndrome, 59, 155-157, 176
188

Atlas of The Newborn Vol 2 - Musculoskeletal Disorders

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VOLUME

Arnold J. Rudolph, M.D.

B.C. Decker Inc.

B.C. Decker Inc.

Sales and distribution

U.K., Europe, Scandinavia, Middle East

Sir William Osler stated, There is no more

physician, nurse, or student with a distillation

Nevertheless, Jack Rudolph continued to

Ralph D. Feigin, M.D.

been kept to a minimum. Additional space

It is hoped that this atlas will provide

and technology. One must bear in mind the

Arnold J. Rudolph, M.D.

Non-Chromosomal Syndromes, Associations and Sequences

Musculoskeletal Disorders and Congenital Deformities

Figure 1.2. Radiograph showing 13 ribs bilaterally in an otherwise normal infant.

Figure 1.3. Lateral radiograph of the spine showing

Figure 1.4. This figure shows the growth arrest

Figure 1.5. A radiograph of the lower

Figure 1.6. A radiograph showing faulty segmentation

Musculoskeletal Disorders and Congenital Deformities

Figure 1.7. Congenital scoliosis is rare in neonates but may

Figure 1.8. In this infant with caudal regression

Figure 1.9. Lateral view of the same infant

Figure 1.10. Frontal view of the same infant showing

Figure 1.12. Anteroposterior and

Musculoskeletal Disorders and Congenital Deformities

Figure 1.13. Radiograph of the

Figure 1.14. An asymmetric form of the

Figure 1.15. Anteroposterior and

Figure 1.17. Anteroposterior and lateral radiograph of an

Figure 1.16. Close-up radiograph of

Figure 1.18. Sirenomelia (mermaid fetus) in an infant of a

Musculoskeletal Disorders and Congenital Deformities

Figure 1.20. Note the anal atresia and postural deformities

Figure 1.19. The same infant as in Fig.

Figure 1.23. This infant of a diabetic mother exhibits

Figure 1.24. Sirenomelia in another infant of a diabetic mother; the

Musculoskeletal Disorders and Congenital Deformities

Figure 1.25. A close-up of the face of the same infant with

Figure 1.26. Radiograph of the lower

Figure 1.28. Close-up of the upper

Figure 1.29. Close-up of the

Musculoskeletal Disorders and Congenital Deformities

Figure 1.31. Close-up of amelia of

Figure 1.32. Close-up of ectromelia of

Figure 1.33. Chest radiograph of

Figure 1.34. In a radiograph of the lower extremities

Figure 1.35. This otherwise normal infant has an

Figure 1.36. This infant represents an example of

Musculoskeletal Disorders and Congenital Deformities

Figure 1.37. Close-up of the phocomelia in the same

Figure 1.38. Hemimelia of the right

Figure 1.39. Close-up of hemimelia in same infant.

Figure 1.41. Another view of the same infant

Figure 1.42. This infant has