Published online: 2021-07-14

Musculoskeletal Imaging

Spine radiograph in dysplasias:

A pictorial essay
Pavan Gabra, Manisha Jana, Priyanka Naranje, Neerja Gupta1, Madhulika Kabra1, Arun K Gupta,
Richa Yadav
Departments of Radiodiagnosis and 1Paediatrics (Division of Genetics), All India Institute of Medical Sciences, Ansari Nagar,
New Delhi, India

Correspondence: Dr. Manisha Jana, Department of Radiodiagnosis, All India Institute of Medical Sciences, Ansari Nagar,
New Delhi ‑ 110 029, India. E‑mail: manishajana@gmail.com

Abstract
Spine radiograph is an essential component of a skeletal survey. It provides important diagnostic clues to various types of skeletal
dysplasia. In some conditions, a spine radiograph alone may be diagnostic and characteristic; but mostly, it yields more value as
a part of the complete skeletal survey. In this article we will discuss about a few common lethal and non‑lethal skeletal dysplasias
and their characteristic imaging findings; primarily focusing on the spine radiograph.

Key words: Achondroplasia; mucopolysaccharidosis; radiograph; skeletal dysplasia; spine

Introduction They appear in the upper cervical, cervicothoracic and

thoracolumbar locations. All three ossification centers are
The vertebral column is composed of vertebrae and present by the 5th month of intrauterine life.[1]
surrounding ligaments. The dorsolumbar spine
(AP and lateral views) radiographs are an essential part Normal Appearance in Different Age Group
of any skeletal survey done to look for skeletal dysplasias.
The rapidly evolving pediatric body makes the knowledge At birth, the centra are united with the neural arches by a
of normal imaging appearance of pediatric spine across the synchondrosis. The arches unite with the vertebral bodies
temporal spectrum an indispensable tool to look for any beginning in the first year of life, with the upper lumbar
abnormality. vertebrae. Unification in the cervical vertebrae happens
typically in the third year. Lower lumbar vertebrae are
Ossification Centers usually the last to unite, by the end of 6th year.[2]

Each vertebra has three ossification centers: one in the The secondary centers appear first during puberty, in
vertebral body and one each for a half of the neural arch, five locations for each vertebra: one at the tip of each
at the base of the corresponding transverse process.[1] The transverse process, one at the tip of spinous process
ossification in the vertebral bodies progresses independent and one each at the superior and inferior endplates of
to that in the neural arches. Ossification centers of the
centra appear in the lower thoracic region and progress in This is an open access journal, and articles are distributed under the terms of
the Creative Commons Attribution‑NonCommercial‑ShareAlike 4.0 License,
a cephalocaudal direction, unlike that of the neural arches.[2] which allows others to remix, tweak, and build upon the work non‑commercially,
as long as appropriate credit is given and the new creations are licensed under
Access this article online the identical terms.
Quick Response Code:
For reprints contact: WKHLRPMedknow_reprints@wolterskluwer.com
Website:
www.ijri.org
Cite this article as: Gabra P, Jana M, Naranje P, Gupta N, Kabra M, Gupta AK,
et al. Spine radiograph in dysplasias: A pictorial essay. Indian J Radiol Imaging
DOI: 2020;30:436-47.
10.4103/ijri.IJRI_395_20 Received: 20‑May‑2020 Revised: 31-Jul-2020
Accepted: 11‑Aug‑2020 Published: 13-Jan-2021

436 © 2021 Indian Journal of Radiology and Imaging | Published by Wolters Kluwer ‑ Medknow

 Gabra, et al.: Spine in dysplasia

vertebral bodies. The variation in normal appearances Diseases with normal bone density
is shown in Figure 1. Achondroplasia
One of the commonest skeletal dysplasia in clinical
Specific Disease Entities practice; this disorder shows some characteristic imaging
findings. Spine radiograph alone can be suggestive; and
Skeletal dysplasias are a very heterogeneous group of disorders sometimes diagnostic of this disease entity. Classical
with 461 different disorders classified into 42 groups, based imaging findings include progressive narrowing of
on genotypes and phenotypes.[3] Skeletal survey is an integral interpedicular distance in lumbar vertebrae, narrow
part of assessment of skeletal dysplasias.[4] While assessing pedicles causing spinal canal stenosis, posterior
spine radiograph as a part of skeletal survey, a systematic scalloping of vertebral bodies, and “bullet vertebra” at
approach is to be adopted.[5]After assessing whether it is a dorsolumbar junction [Figure 2].[6] Other findings include
generalized/localized abnormality in the spine; the spine an exaggerated lumbar lordosis and horizontally oriented
radiograph should be assessed for the state of ossification, sacrum. Other radiographs may show classical findings
segmentation anomaly, flattening (platyspondyly), or as well [Table 1].
specific morphologic changes. Here in this article, we will
describe disease entities subcategorized depending on their Hypochondroplasia
bone density. We shall highlight those diseases where spine The clinical phenotype and radiological findings are similar
radiograph is diagnostic; either alone or in combination with to achondroplasia; but findings are usually mild. Spine
a few other radiographs. and cranial radiographs may show only mild changes
[Figure 3].[7]
Diseases with uniform/generalized affection of the entire
vertebral column Thanatophoric dysplasia
This category can be subdivided into three groups: diseases This is a lethal skeletal dysplasia, allelic to achondroplasia
with normal, decreased, and increased bone density. but having more severe presentation. It can be detected on
Individual groups are described separately. prenatal ultrasonography in view of severe micromelia.

A B C D E
Figure 1 (A-E): (A-E) Normal appearances across various ages. (A and B) Normal appearance in 6 month girl. Note the globular shape of lumbar
vertebral bodies; and lucencies overlying thoracic vertebrae (arrow in B) which can mimic spina bifida. This appearance is due to unossified
cartilage of the spinous process. (C) Normal infant. Note the globular shape of vertebral bodies and an anterior concavity over the lumbar vertebral
bodies (arrows). (D and E) Normal 13 year old boy. Normal adult shape of the vertebrae is evident

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A B C
Figure 2 (A-C): (A-C) Achondroplasia. (A) Lack of progressive widening of interpedicular distance, with narrowing at L5‑S1 level (arrow). Lateral
spine radiograph (B) shows posterior scalloping (arrows) of vertebral bodies, narrow pedicles (dotted arrows), and classical “bullet vertebra”
appearance at the dorsolumbar junction. D12 has been marked for diagrammatic depiction of morphology (yellow: vertebral body, blue: pedicle).
Pelvis radiograph (C) “tombstone pelvis”, trident sign (arrow), and rhizomelic shortening

Campomelic dysplasia
This is a perinatally lethal dysplasia. Common imaging
findings include shortening and bowing of the long
bones, diaphyseal spurs, hypoplastic scapulae, narrow
and “foreshortened” iliac wings, 11 pairs of ribs, and
hypoplastic fibulae. The long bones in lower limb shows
typical angulation; in femur at the junction of upper third
and mid‑third; whereas in tibia at the junction of mid and
lower third.

In the spine radiograph, the typical imaging finding is

absent ossification of the pedicles of thoracic vertebrae.[8]
Bone density is usually normal.

Pseudoachondroplasia
This disease entity is a variant of the spondyloepiphyseal
dysplasia group of disorders. Spine as well as the
epiphyses show typical imaging features. Spine
radiograph reveals platyspondyly and classical central
A B “tongue‑like” projection, most prominent in the lumbar
Figure 3 (A and B): (A and B) Hypochondroplasia: AP radiograph vertebrae [Figure  5].[9] This is to be differentiated from
of (A) showing only mild progressive narrowing of interpedicular
distance. Lateral radiograph  (B) shows definite, but mild, posterior
the central beaking of Morquio syndrome. The projection
vertebral body scalloping (arrows) in pseudoachondroplasia is thicker/wider than that
in Morquio syndrome. Other important findings in
Typical radiographic findings [Figure 4] include “wafer‑thin” pseudoachondroplasia include prominent posterior
vertebral bodies, bent or “ telephone handle” shaped costo‑vertebral junctions, generalized epiphyseal
femur, trident pelvis, severe micromelia, and a deformed irregularity, delayed appearance, and small size of
“cloverleaf”skull in some subtypes.[5] The bone density is femoral head epiphysis, wide open triradiate cartilage,
usually normal. metaphyseal beaking/spurs[Figure 6].[9,10]

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Table 1: Common imaging findings in skeletal dysplasias where spine radiograph is suggestive/diagnostic
Disease entity Changes in spine Other radiographs
Achondroplasia Progressive narrowing of interpedicular Rhizomelic dwarfism
distance in lumbar vertebrae Short, broad ‘champagne glass’ pelvis with round, broad
Posterior scalloping of vertebral bodies ‘bullet ‘elephant ear’ iliac wings
vertebrae’ ‘Trident sign’: prominent sciatic notch
Exaggerated lumbar lordosis Chevron deformity, especially at lower femoral metaphysis
Preserved bone density and vertebral body Widely spaced 2nd and 3rd metacarpals (‘trident hand’)
height
Thanatophoric dysplasia Wafer thin vertebral bodies Micromelic dwarfism with bowed (type 1) or straight (type 2)
Normal bone density femurs & brachydactyly
Macrocephalic clover leaf skull
Narrow thorax with short ribs
Pseudoachondroplasia Platyspondyly Delayed fusion of triradiate cartilage in pelvis
Wide central anterior tongue like projection Very delayed appearance and development of femoral head
epiphyses
Epimetaphyseal involvement
Prominent posterior costochondral junctions
MPS IV (Morquio syndrome) Variable platyspondyly Macrocephaly
Increased intervertebral disc height Delayed carpal/tarsal and femoral head ossification with
Thin anterior central beaking premature arthropathy
Odontoid hypoplasia Proximal pointing of metacarpals
Irregular epiphyses with widened metaphyses
Spondyloepiphyseal dysplasia Significant platyspondyly Delayed ossification of carpals, tarsals including calcaneum,
congenita (SEDC) Anisospondyly femoral head and pubic bone with premature arthropathy
Cervical kyphosis Macrocephaly
Pear shaped vertebral bodies Horizontal acetabular roof
Normal hands/feet
Retinal detachment, high myopia
Spondyloepiphyseal dysplasia Variable platyspondyly Normal skull/hands/feet
tarda (SEDT) Posterior hump of vertebral bodies Premature arthropathy of hips with irregular epiphyses
Narrow pelvis
Progressive pseudorheumatoid Mild platyspondyly Metaphyseal expansion in short bones of hand and feet,
arthropathy of childhood (PPAC) Reduced intervertebral disc height especially the proximal phalanges
Gouge shaped anterosuperior vertebral
endplate defect
Spondylometaphyseal dysplasias (SMD) Subtle vertebral endplate irregularities Metaphyseal corner fracture of long bones (Sutcliffe type)
Mild (Sutcliffe type) to pronounced
platyspondyly (Kozlowski type)
Ovoid vertebral bodies (Sutcliffe type)
Rounded pedicles (Kozlowski type)
DMC syndrome Irregular constrictions at central vertebral Short stature, intellectual disability
endplates Lacy iliac wings
Small & irregular femoral head epiphyses
Chondrodysplasia punctata (CDP) Vertebral body stippling Variable stippling of multiple epiphyses of long bones, carpals
Coronal clefting in dorsolumbar vertebrae and tarsals (early in life)
Irregular epiphyses with asymmetric limb shortening (late in
life)
Osteogenesis imperfecta Reduced bone density Diffuse osteopenia
Biconcave codfish vertebrae Pencil thin cortices
Mild to severe platyspondyly (type 3) with Multiple long bone metaphyseal fractures at variable stages
multiple vertebral body collapses (type 3) of healing
Macrocephaly with platybasia and Wormian bones
Hypertrophic Callus (type 5)
Interosseous membrane ossification (type 5)
Achondrogenesis Poor ossification of vertebral bodies with preserved Micromelic dwarfism
ossification of pedicles Unossified skull vault (type 1A/B)
Platyspondyly Crescent shaped iliac wings (type 1A/B)
Widened cervical and lumbar spinal Beaded ribs (type 1A)
canals (type 1B)

Contd...

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Table 1: Contd...
Disease entity Changes in spine Other radiographs
Hypophosphatasia Poor ossification of both vertebral bodies and Poor skull base ossification
pedicles Thin ribs
Metaphyseal lucencies
Diaphyseal spurs
Missing long bones (absent ossification)
Hypoplastic fibulae
Osteopetrosis Increased bone density with predominant Obliteration of medullary cavities of long bones
endplate involvement (‘sandwich vertebrae’) Bone within bone appearance
Multiple long bone fractures
Pyknodysostosis Spool shaped vertebrae (central concavity at Obtuse mandibular angle
anterior border) Wide open skull sutures with multiple wormian bones
Terminal acrosteolysis
Preserved medullary cavity
Small pelvis with shallow acetabular cavity

A B
Figure 5 (A and B): (A and B) Pseudoachondroplasia. Spine radiograph
in two patients. 2 year old girl (A) showing severe platyspondyly
with anterior tongue‑like projections  (arrows); mimicking MPS IV.
Seven year old girl showing more pronounced projections (arrows
in B). L1 vertebral body has been marked in yellow for diagrammatic
representation of morphology

Mucopolysaccharidoses (MPS)
Mostly diagnosed on the clinical phenotype and
enzyme assays, this group of disorders shows typical
changes in spine radiograph; as a part of “dysostosis
multiplex.” Usual imaging findings include variable
platyspondyly, anterior vertebral beaking, odontoid
hypoplasia, and maintained/increased intervertebral
Figure 4: Thanatophoric dysplasia in a stillborn. Note well mineralized
bones, “wafer thin” vertebrae (arrows), trident acetabulum (dotted arrow disc height [Figure 7].[11] The beaking is in anteroinferior
& marked in yellow), and short bowed femur (curved arrows) location in MPS type 1 (Hurler’s syndrome)[12] and central

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in MPS type 4 (Morquio syndrome). [13] Other imaging usually manifests with a very short stature, coxa vara,
findings are listed in Table 1. waddling gait, and retinal detachment/high myopia in
childhood.[16] Radiographic findings are quite characteristic.
Mucolipidosis (MLS) Spine radiograph reveals significant platyspondyly,
Several subtypes of this disease entity exists. Skeletal survey anisospondyly (variation in size of vertebral bodies),
reveals imaging findings similar to MPS; with the additional cervical kyphosis, and a pear‑shaped vertebral body
finding of periosteal “cloaking”[14] or lamellated periosteal in smaller children/infants [Figure 9].[17] Other classical
reaction involving the long bones [Figure 8]. This typical imaging findings include apparent pubic diastasis, coxa and
imaging finding is most evident in infancy and disappears vara, very delayed appearance of femoral head epiphyses,
thereafter. generalized epiphyseal irregularity [Table 1].

Spondyloepiphyseal dysplasia congenita (SEDC) Spondyloepiphyseal dysplasia tarda (SEDT)

As evident by its name, this disease entity affects the spine A very heterogeneous group of disorders, this disease
and the long bone epiphyses. A disease caused by faulty also affects the spine as well as the epiphyses. However,
collagen development (collagenopathy)[15]; this disease the presentation is not as early as SEDC. Usual clinical
presentation is with premature osteoarthritis involving
the large joints. Many clinical variants are known to exist.

A B
Figure 6 (A and B): (A and B) Classical appearance of pelvis
in pseudoachondroplasia in different age groups. 6 year old girl
(A) showing wide unossified Y cartilage (asterisk), small femoral head
epiphyses (arrow), unossified inferior pubic rami (block arrows). Same A B C
girl at the age of 13 years (B) show more pronounced degenerative Figure 7 (A-C): (A-C) MPS 1 (A) showing typical anteroinferior beaking
changes around hip joints. Note that the femoral head is yet very of lumbar vertebrae (arrows). MPS 4 (B) showing diffuse platyspondyly
small  (arrow); Y cartilage and inferior pubic rami  (block arrow) still with thin central beaking (arrows) and widened IV disc spaces. Typical
unossified. Note the typical flaring of lower femur and upper tibial vertebral shape has been marked in yellow in a and blue in b. Hand
metaphyses (marked in yellow) radiograph (C) showing proximal pointing of metacarpals (marked in
yellow) and “bullet shaped” phalanges (marked in white)

A B D
A B C Figure 9 (A-D): (A-D) Spondyloepiphyseal dysplasia
Figure 8 (A-C): (A-C) Mucolipodosis in a 3 year old boy. Globular congenita (SEDC). (A and B) Anisospondyly: L4 is larger than L3
appearance of vertebrae with subtle anteroinferior beaking (marked in and L5 (A); L5 smaller than rest of the lumbar vertebrae (B) Cervical
yellow in A). Florid dysostosis multiplex is not seen, however medullary kyphosis (arrow) with cervical vertebral body hypoplasia (C) Apparent
expansion (manifested by thinning of cortices) and undertubulation is DDH in pelvis radiograph (D) in a 4 year old boy due to delayed
evident in hand bones and humerus (arrows in B and C) ossification of femoral head epiphyses (dotted arrows)

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Typical imaging findings include variable platyspondyly pronounced platyspondyly and rounded appearance of
and “posterior hump” of vertebral bodies [Figure  10].[18] pedicles on AP spine radiograph.[23]
Epiphyses of the long bones show irregular outline and
early degenerative changes. Multiple epiphyseal dysplasia (MED)
Multiple epiphyseal dysplasia primarily presents as
Progressive pseudorheumatoid arthropathy of childhood (PPAC) generalized epiphyseal irregularity and sclerosis.[24] The
A subtype of SEDT; this disease has a unique clinical spinal changes are variable, and may be only subtle
presentation with early development of painless joint irregularity of the endplates.[18]
contractures involving small joints of the hand.[19] It often
mimics rheumatologic condition[20] and misdiagnosed based Dyggve‑Melchior Claussen syndrome (DMC)
on clinical appearance alone. Imaging is diagnostic of this Clinical presentation of this rare disorder is usually with
entity. Spine radiograph shows anterosuperior endplate intellectual disability and short stature. Apart from the
defect (gouge shaped) with mild platyspondyly. Early classical and characteristic “lacy iliac wings”[25]; the spinal
development of degenerative changes and reduction of changes also are quite suggestive. It presents as irregular
IVD spaces may occur. Diagnostic hand/feet radiographic constrictions at the central vertebral endplates [Figure 13].
finding is metaphyseal expansion of proximal phalanges
[Figure 11].[21] Chondrodysplasia punctata (CDP)
Several subtypes of this disease exist. Most striking imaging
Spondylometaphyseal dysplasias (SMD) appearance is stippling of the bones.[26] This feature can
Various subtypes exist; with the common feature of be seen involving long bone epiphyses, carpal and tarsal
involvement of spine as well as long bone metaphyses. The bones and even involving the vertebral bodies. Coronal
spinal changes may range from subtle endplate irregularity
to platyspondyly [Figure 12]. Spondylometaphyseal
dysplasia Sutcliffe type  (corner fracture type) may show
ovoid appearance of vertebral bodies. A distinctive feature
of this entity is presence of “corner fractures” at long bone
metaphyses.[22] SMD Kozlowski type presents with a more

A B
Figure 11 (A and B): (A and B) PPAC in a 10‑year old boy
presenting with painless contractures of small joints of hands. Typical
anterosuperior endplate defects (arrows) in dorsolumbar vertebrae (A).
Typical morphology marked in yellow. Classical metaphyseal expansion
of the proximal phalanges (arrows in B)
A B
Figure 10 (A and B): (A and B) Spondyloepiphyseal dysplasia
tarda  (SEDT). Platyspondyly with classical “hump” at the posterior
2/3rd part of vertebral bodies (arrows in A) with severe reduction
of IVD spaces. Extensive early degenerative changes around hip
joints (arrows in B)

A B C A B
Figure 12 (A-C): (A-C) Spondylometaphyseal dysplasia Kozlowski Figure 13 (A and B): (A and B) DMC in a 7‑year girl with intellectual
type. Significant platyspondyly  (arrows in A and B) with rounded disability. Typical central endplate depression in thoracolumbar
pedicles (dotted arrow in A). Extensive metaphyseal irregularity (arrow) vertebrae (arrows in A). Typical morphology marked in yellow. Classical
in proximal femur (C) “lacy” iliac wings (arrows in B)

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clefts can be seen in dorsolumbar vertebrae [Figure 14].[18] Other subtypes may show a milder degree of platyspondyly.
Platyspondyly is usually absent. Other imaging findings of OI are listed in Table 1.

Diseases with reduced bone density In a spine radiograph with generalized osteopenia and
Osteogenesis imperfecta (OI) platyspondyly; it is always prudent to exclude leukemia as
Phenotypically and genotypically very heterogeneous; this a cause, especially in a recent onset platyspondyly.
disease entity can present either in the perinatal period or
Achondrogenesis
much later in life with recurrent fractures. The most severe
This is a lethal skeletal dysplasia. Several different
lethal perinatal type 2 OI may not very often undergo
subtypes have been described; types IA, IB, and II.
radiological imaging. Type 3 OI shows the presence
Their radiological phenotypes are different; and so also
of significant platyspondyly; multiple vertebral body
are the genetic abnormalities. All the three types show
collapses [Figure 15]; evidence of recurrent fractures involving absent/very poor ossification of vertebral bodies with
long bones and ribs, multiple wormian bones in the skull.[1,18] ossification of pedicles. Crescent shaped iliac wings and
non‑ossified skull vault are seen in types IA and IB. Type
IA also shows “beaded ribs.” Type IB shows widening of
cervical and lumbar spinal canals, termed as “cobra‑head”
appearance [Figure 16].[5,27,28] It is important to recognize the
findings of undermineralization and platyspondyly on an
antenatal sonography.

Hypophosphatasia
Perinatal hypophosphatasia is a rare lethal skeletal dysplasia
characterized by undermineralization of bones. There
is poor ossification of neural arches, pedicles, and even
entire vertebral bodies.[29] Other imaging findings include
shortening and bowing of long bones with diaphyseal
“spurs”, metaphyseal lucencies, non‑ossification involving
long bones (missing bones), hypoplastic fibulae, absent skull
base ossification, and thin ribs.

Osteopenia with tall vertebral bodies in a child with short

stature can be found in 3M syndrome.

Diseases with increased bone density

Osteopetrosis
One of the common sclerosing bone dysplasia; this disease
presents with hepatosplenomegaly and signs of bone

A B C
Figure 15 (A-C): (A-C) Osteogenesis imperfecta type 3. Note severe
osteopenia and multiple vertebral body collapses (arrows in B)
(A and B). Note that owing to osteopenia, it is difficult to differentiate
Figure 14: Chondrodysplasia punctata. Extensive stippling involving between vertebral body and IV disc space density. Severely deformed
nearly all vertebral bodies including sacrum (arrows) long bones with transverse fracture (arrow in C)

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marrow failure. [1] Osteopetrosis has two major types: obliteration of marrow cavity, bone‑within‑bone appearance,
autosomal recessive (more severe infantile variety) and and calvarial sclerosis. Renal tubular acidosis may be
autosomal dominant variety. associated.

The autosomal dominant variant has two subtypes: I and II. Pyknodysostosis
Commonly, the patients present with recurrent fractures, This is another sclerosing bone dysplasia and considered
hepatosplenomegaly, and anemia. Multiple cranial nerve in a differential diagnosis of osteopetrosis on radiographs.
compression may occur secondary to skull vault sclerosis. The clinical presentations are different from that of
Radiographic features include generalized osteosclerosis, osteopetrosis. Usually there is no hepatosplenomegaly or
sclerosis of the base of skull (subtype I of autosomal anemia.[1] On radiographs, medullary cavities of the long
dominant osteopetrosis), multiple fractures involving the bones are preserved. Differentiation from osteopetrosis
long bones. solely on the basis of spinal radiograph is not often
possible. Typical imaging findings include “spool shaped”
Spine radiograph shows classical “sandwich” vertebrae, vertebrae,[31] acro‑osteolysis of distal phalanges of hands/
especially in the subtype II autosomal dominant form.[18,30] feet, obtuse mandibular angles, and wide open cranial
This appearance refers to a marked sclerosis of the upper sutures [Figure 18].[32]
and lower endplates [Figure 17]. Other long bones show
the classical “bone‑within-bone” appearance. Diseases with more focal/localized involvement of the
vertebral column
The autosomal recessive variant of osteopetrosis has more This group predominantly involves the vertebral
severe clinical manifestations early in infancy. They present segmentation anomalies; which can be isolated or as a
with failure to thrive, hepatosplenomegaly, anemia and part of some defined syndromes. Isolated segmentation
pancytopenia, and features of cranial nerve entrapment. anomalies of one vertebral body in the form of a butterfly
Radiographic features include generalized osteosclerosis, vertebra or hemivertebra may be an isolated finding;
however, in presence of specific clinical morphologic
markers, they may be significant.

Multiple vertebral segmentation anomaly is more suggestive

of a syndromic association.

Klippel‑Feil syndrome
Usually presents as a short neck, low hairline and restriction
of neck movements. On radiographs, there are usually

A B
Figure 16: Achondrogenesis type IB. infantogram in a stillborn Figure 17 (A and B): (A and B) Osteopetrosis. Classical “sandwich
fetus shows non‑ossified vertebral bodies and visualization of the vertebrae” (arrows in a). Extensive bony sclerosis and obliteration of
pedicles (arrows), crescent shaped iliac wing (dotted arrow and marked marrow cavity (asterisk in B). Note fracture of left femoral neck (arrow
in yellow), severe micromelia (curved arrows), no beading of the ribs in B)

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A B C
Figure 18 (A-C): (A and C) Pyknodysostosis. Osteosclerosis and spool shaped vertebrae (arrows in A, and marked in yellow). Associated findings
are obtuse mandibular angle (B), wide open lambdoid suture (arrow in B) and acroosteolysis (dotted arrow in C)

multiple cervical vertebral segmentation anomalies, an

abnormal bony bar (omovertebral bar) connecting a high‑up
and small malaligned scapula.

Spondylocostal dysostosis
This is a heterogeneous group of disorder characterized by
multiple vertebral segmentation anomalies  (>/= 10), and
associated rib anomalies (fusion/absence/malalignment).
The thoracic cavity is mostly symmetrical in these groups
of disorders. The spondylocostal dysostosis type 1 is also
known as Jarcho‑Levin syndrome and is characterized
by severe shortening of the axial skeleton resulting in a
“crab‑like chest.” The typical radiological appearance of
SCD type 1 is a “pebble like” appearance of the vertebral
bodies; whereas in SCD type 4 the classical appearance
described is a “tramline” appearance [Figure 19] secondary
to the prominent pedicles.[33]

There are several diagnostic algorithms[33] described for

analysis of vertebral segmentation anomalies, detailed
description of which is beyond the scope of this article.

Approach to a Spine Radiograph in Suspected

Dysplasia

In a suspected skeletal dysplasia, it is always essential to

exclude the presence of metabolic diseases first. Whenever
assessing a spine radiograph, bone density and bony
trabeculae should be assessed first. Systematic evaluation
of vertebral height and morphology should be assessed
next. Any classical imaging finding as described above
Figure 19: Spondylocostal dysostosis 4. Multiple vertebral segmentation should be correlated with other radiographs of the skeletal
anomalies (arrows) and associated rib anomalies (dotted arrow). Note
the prominent pedicles giving rise to “tram track appearance”. Lumbar survey. A  suggested simplified approach is provided in
vertebrae are normal Figures 20 and 21.

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Figure 20: Approach to an abnormal spine radiograph with reduced bone density

Figure 21: Suggested approach to an abnormal spine radiograph in suspected skeletal dysplasia; with normal bone density

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 Gabra, et al.: Spine in dysplasia

Conclusion et al. The natural history and osteodystrophy of mucolipidosis types

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Indian Journal
Journal of
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Imaging // Volume
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