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CONGENITAL AND These pathologies involve mutations at the

CLCN7 gene:
HEREDITARY DISEASE
1. Autosomal Recessive Osteopetrosis
Osteogenesis Imperfecta (OI) - Brittle bone
(ARO) – Infancy
disease is a quite serious and rather rare
2. Intermediate Autosomal Osteopetrosis
heritable or congenital disease affecting the
(IAO) – Childhood
skeletal system
3. Autosomal Dominant Osteopetrosis
 The eight recognized types are classified type II (ADOII) – Late childhood or
as type I to type VIII, with type I being adolescence
the mildest and type VIII the most  In osteopetrosis, bones are abnormally
severe heavy and compact but nevertheless
 It is caused by mutations in the two brittle
structural genes that encode the α1-  Disorders characterizing osteopetrosis
and α2-peptides of type I collagen include osteoscleroses, craniotubular
(affecting the cranium and tubular long
2 main clinical groups of OI are based on the bones) dysplasias, and craniotubular
age of onset and the severity of the disease: hyperostosis
1) Osteogenesis imperfecta congenita - is Albers-Schönberg Disease - is a fairly
present at birth and results in limb common form of osteosclerotic
deformities and dwarfism and may lead to osteopetrosis
death.
Craniotubular Dysplasias - are a group of
2) Osteogenesis imperfecta tarda - rare autosomal recessive hereditary
fractures might not appear for some years diseases, which mainly result in abnormal or
after birth and then generally stop once defective bone contour of the cranium and
adulthood is reached long bones
 In some cases, however, a hearing HAND AND FOOT MALFORMATIONS
disorder persists because of
otosclerosis, which is the formation of Syndactyly - failure of the fingers or toes to
abnormal connective tissue around the separate and causes the physical
auditory ossicles appearance of webbed digits. It is also
associated with Apert Syndrome, which is a
Achondroplasia - most common inherited genetic syndrome involving mutations of
disorder affecting the skeletal system which fibroblast growth factor receptor
results in bone deformity and dwarfism
Polydactyly - refers to the presence of extra
 It is caused by an autosomal dominant digits, and treatment includes surgical
gene (FGFR3) at the 4p chromosome intervention and therapy
location, and this gene does not skip
generations Clubfoot (Talipes) – congenital
 Because of a disturbance in malformation of the foot that prevents
endochondral bone formation, the normal weight bearing. The foot is most
cartilage located in the epiphyses of the commonly turned inward at the ankle
long bones does not convert to bone in Developmental Dysplasia of the Hip (DDH) -
the normal manner, impairing the malformation of the acetabulum. Because
longitudinal growth of the bones the acetabulum does not form completely,
 In some instances, ultrasonography may the head of the femur is displaced superiorly
be used for prenatal diagnosis of and posteriorly
achondroplasia
 Patient has normal trunk size and  DDH affects approximately 1 in 1000
shortened extremities and adult is no births and may be associated with
more than 4 feet in height cerebral palsy, myelomeningocele,
 Most recently, clinical trials have arthrogryposis, and Larsen
involved GH injections in the treatment syndrome
of children with achondroplasia  Larsen syndrome is a mutation of
the FLNB gene affecting the
Osteopetrosis – “marble bone” used to production of filament B protein
characterize a variety of disorders involving an  This anomaly should be treated early
increase in bone density and defective bone with immobilization through casting
contour, often referred to as skeletal modeling or splinting the affected hip to allow
the acetabulum to grow and form a
normal joint
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VERTEBRAL ANOMALIES  Although this defect may be corrected

with surgery, brain damage may occur
Scoliosis – refers to an abnormal lateral curvature
of the spine Types of Synostosis:

1. Dextroscoliosis – towards right 1. Sagittal Synostosis (Scaphocephaly)

2. Levoscoliosis – towards left  Sagittal suture fuses too early
 The head grows long but its width is
 Does not generally become visually restricted
apparent until adolescence
 Tends to affect girls more frequently 2. Coronal Craniosynostosis
than boys  Early fusion of one or both of the
coronal sutures
Nonstructural Scoliosis - in which the primary
issue is not vertebral rotation, usually results Unicoronal synostosis (Anterior Plagiocephaly)
from unequal leg lengths or compensatory
 Premature fusion of a single coronal
postural changes affected by chronic pain
suture
elsewhere in the body
 Results in restricted anterior growth of
 Scoliosis may be corrected by placing the skull, involving the top of the skull
the individual in a brace or body cast in as well as the cranial base
patients with curves of 25 to 35 degrees
Bicoronal synotosis (Brachycephaly)
 Surgical treatment with spinal fusion is
prescribed for curvesgreater than 40  Fusion of both coronal sutures
degrees  Causes restriction of growth of the
anterior fossa resulting in a shorter and
Transitional Vertebra - is one that takes on the
wider than normal skull
characteristics of both vertebrae on each side of
a major division of the spine
3. Metopic Synostosis ((Trigonocephaly)
Spina Bifida - an incomplete closure of the  Much rarer form of craniosynostosis
vertebral canal that is particularly common in the  Babies develop a triangular scalp
lumbosacral area  There is restriction of growth across the
forehead leading to a triangular shape
 Laminae failed to fuse posteriorly and true narrowing of the orbits
 Treatment of spina bifida is determined
on the basis of the extent of the 4. Lambdoid Synostosis (Posterior
anomaly and requires the services of a Plagiocephaly)
variety of physicians  Most commonly mistaken for
Spina Bifida Occulta - no visible abnormality or posterior positional deformational
neurologic deficit, but failure of fusion of the two plagiocephaly and must be closely
laminae is visible radiographically evaluated
 Unilateral lamdoid synostosis results
 Much more common in flattening of the back of the head
 Generally asymptomatic/no signs unless on the affected side as well as
the underlying spinal cord is affected compensatory growth of the
mastoid process on the same side
Spina Bifida Cystica - spinal-wall defect is
(ipsilateral mastoid bulge)
accompanied by a protrusion of the spinal cord.
This may take 2 forms: Anencephaly - Congenital abnormality, a neural
tube defect, in which the brain and cranial vault
1. Meningocele - a birth defect where
do not form (only the facial bones are formed)
there is a sac protruding from the spinal
with an unknown cause
column
2. Meningomyelocele/Myelomeningocele  Results in death shortly after birth and
- an NTD in which the bones of the spine may be diagnosed before birth by
do not completely form ultrasonography
 It is suspected that anencephaly may be
CRANIAL ANOMALIES caused by a combination of multiple
Craniosynostosis - premature or early closure of genetic and environmental factors such
any of the cranial sutures that causes an as deficiency of folate, diabetes mellitus,
overgrowth of unfused sutures to accommodate exposure to high heat in early
brain growth, which alters the shape of the head pregnancy, or use of certain antiseizure
medications during pregnancy
 It is often associated with Apert syndrome, a
genetic disorder that is caused by a mutation
of the FGFR2 gene on chromosome 10
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INFLAMMATORY DISEASE c) Rheumatoid Arthritis - chronic autoimmune

disease that may fluctuate in severity
Osteomyelitis - Infection of the bone and bone
marrow caused by a pathogenic microorganism  Characterized by chronic inflammation
spread via the bloodstream (hematogenous), and overgrowth of the synovial tissues,
from an infection within a contiguous site, or most often in the extremities
through direct introduction of the  RA develops slowly, and as synovial
microorganism tissues proliferate, they progressively
destroy cartilage, bone, and supporting
 Signs and symptoms may include dull structures
pain, heat in the affected area, and an
intermittent low-grade fever Reiter Syndrome - a variant of rheumatoid
 The distal femur, proximal tibia, arthritis occurring most commonly in young
humerus, and radius are most males. It has been associated with bacterial
commonly affected in children and the infections of the gastrointestinal (GI) and
vertebrae in adults genitourinary systems by organisms
 A sequestrum is dead, devascularized  Sacroiliac joints, heels (calcanei), and
bone that appears very dense toes are generally affected in this
 An involucrum is a shell of new syndrome, sometimes referred to as
supporting bone laid down by the “lover’s heel”
periosteum around the sequestrum
Juvenile Rheumatoid Arthritis - also known as
One characteristic is the formation of Brodie’s Still disease, affects children under age 16 years
Abscess - It is typically found in the tibia and is an and is similar to the adult form of RA ((Fibrosis
indication of osteomyelitis and proliferation are less than in the adult form)
Tuberculosis - a chronic inflammatory disease Ankylosing Spondylitis - also known as Marie-
caused by Mycobacterium tuberculosis. Displays Strümpell disease, a progressive form of
a “worm-eaten” appearance arthritis, mainly involving the spine; in this
Pott Disease - tuberculosis of the spine disease, joints and articulations become
ankylosed, especially the sacroiliac joints
Arthropathies - a collective term used to denote
disorders of the joints, includes, but is not  The spine becomes a rigid block of bone,
limited to, arthritis, bursitis, tendonitis, and giving the condition its characteristic
tenosynovitis nickname “bamboo spine”

Arthritis - joint inflammation and may be caused Osteoarthritis - The most common type of
by a variety of etiologic factors arthritis, also known as degenerative joint
disease
 Arthritis may be further classified as
acute and chronic; the most common  Primary Osteoarthritis - may be
forms are chronic and disabling inflammatory or erosive and destructive
deterioration of the joint cartilage that
a) Infectious Arthritis - caused by infectious occurs with normal wear and tear
agents entering the joint through a break in skin,  Secondary Osteoarthritis - occurs as a
via extension from an adjacent infection such as result of bone stress associated with
osteomyelitis or an infected wound, or as a result trauma, congenital anomalies, or other
of bacteremia diseases that alter the hyaline cartilage
and surrounding tissue
 Diagnosis is generally made by analysis
of blood and synovial fluid from the Osteoarthritis generally affects the large,
infected area primary weight-bearing joints of the body
such as the hip, where it is particularly
b) Psoriatic Arthritis - an inflammatory arthritis
disabling, or the knees and ankles
associated with psoriasis of the skin and involves
a rheumatoid-like destructive process that Osteoarthritis may also affect the
predominantly affects the distal interphalangeal interphalangeal joints of fingers, especially
(DIP) joints of hands and feet after menopause, more than it affects men.
With this condition, fingers become enlarged
 A distinctive radiographic difference
and often develop bony knobs termed
between psoriatic arthritis and
Heberden Nodes and Bouchard Nodes.
rheumatoid arthritis (RA) is that in
psoriatic arthritis bone density is usually  Heberden’s node: Distal
preserved interphalangeal joint
 Bouchard’s node: Proximal
interphalangeal joint
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Osteophytes (Bone Spur) - an overgrowth of 2) Retrospondylolisthesis - posterior slipping of

articular cartilage occurs on the peripheral the body of the vertebra
surfaces of the joint and often calcifies that are
visible radiographically  Commonly occurs at the L5-S1 junction
and is best detected on a lateral
Gouty Arthritis - an inherited metabolic projection
disorder in which excess amounts of uric acid  Conservative medical management
are produced and deposited in the joint and (e.g., rest, chiropractic manipulative
adjacent bone therapy) is the preferred choice for
treatment before surgical fusion
 Frequently in men and most commonly
 Spondylosis can result in the forward
affects the metatarsophalangeal joint of
movement (subluxation) of one
the great toe
vertebral body on another and result in
 Tophi - large masses of these sodium
a condition called sphyndolithesis
urate crystalline deposits in joints and
other sites
Associated Joint Structures:
The specialized connective tissues that attach
muscle to bone are called tendons
1) Tendonitis - inflammation of a tendon
2) Tenosynovitis - inflammation of the tendon
and the sheath around
3) Bursitis - bursa becomes inflamed
 Inflammation of these associated
structures may be caused by acute or
chronic trauma (e.g., “housemaid’s
knee”), acute or chronic infection,
inflammatory arthritis, gout, and, rarely,
infection by pyogenic or tuberculous
organisms.
Ganglion Cyst – a cystic swelling that develops
in connection with a tendon sheath. Ganglions
commonly occur in the back part of the wrist
joint, but they can occur in any joint space

VERTEBRAL COLUMN
The causes of vertebral column injuries include
direct trauma, hyperextension–flexion injuries,
osteoporosis, and metastatic destruction
 Myelographic examination alone may
visualize the nerve roots and
subarachnoid space and clearly
demonstrate posture related disk
anomalies
 MRI demonstrates the spine in multiple
planes and is unsurpassed in its ability to
demonstrate the spinal cord, nerve
roots, subarachnoid and epidural
spaces, vertebral disks, and the SPONDYLOLYSIS – a cleft, or breaking down, of
paraspinal tissues the body of a vertebra between the superior and
 Whiplash - term that encompasses soft inferior articular processes (pars interarticularis)
tissue neck injuries from a variety of results in spondylolysis
causes  It appears radiographically as a “collar”
SPONDYLOLISTHESIS - slipping of the body of the or “broken neck” on the “Scotty dog”
vertebra and is demonstrated on an oblique
projection of the lumbar spine
1) Anterospondylolisthesis - anterior
slipping of the body of the vertebra
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Endochondroma - a slow-growing benign tumor

composed of hyaline cartilage and is
hypothesized to be a result of incomplete
endochondral ossification
 It grows in the marrow space and most
commonly affects the small bones of the
hands and feet of individuals between
the ages of 30 and 40 years
 These benign tumors do not invade
surrounding tissue as they grow;
however, they do expand the cortical
SPONDYLOSIS - A painful condition of the spine bone, causing thinning
resulting from the degeneration of the  A radiolucent, “cystic” or “bubbly”
intervertebral disks and the joint spaces appearance
 Used to describe osteoarthritis of the Enchondroma – a benign tumor that is often
spine, but it is also commonly used to found in the hands, feet, and ribs of young adults
describe any manner of spinal
degeneration Enchondromatosis (Ollier Disease) –is a term for
multiple growths that may also occur in
NEOPLASTIC DISEASE childhood and is like multiple osteochondromas

Primary bone tumors are more common in Simple Unicameral Bone Cyst (UBC) - a wall of
children than in adults, and metastatic bone fibrous tissue filled with fluid. These frequently
lesions far outnumber the incidence of primary occur in the long bones of children, most
bone neoplasms in the adult commonly in the humerus and proximal femur

There are two general categories of bone Aneurysmal Bone Cyst (ABC) - an idiopathic
tumors: condition and not a true neoplasm. These cysts
generally occur in the metaphysis of long bones
1) Osteolytic – cause bone destruction and result in individuals under the age of 20 years
in a decrease in bone density and have a lucent
radiographic appearance Giant Cell Tumor (Osteoclastoma) -
characterized by the presence of numerous,
2) Osteoblastic – cause excessive bone growth multinucleated osteoclastic giant cells
and result in an increase in bone density and
have an opaque radiographic appearance  GCTs of the tendon sheath are the
second most common benign soft tissue
Osteochondroma (Exostosis) - most common lesions of the hand and wrist
benign bone tumor which is three times more  GCTs may be either benign or malignant
common in men than in women  Are usually located in the epiphysis
 Often found in the growth zone between producing erosion and thinning of the
the epiphysis and diaphysis of long cortical bone without new bone growth
bones, also called metaphysis  Giant Cell Tumor is a mass of osteolytic
 Most commonly, it involves the lower or cystic areas surrounded by a thin shell
femur or upper tibia and is capped by of bone, giving it the classic “soap
growing cartilage attached to the bubble” appearance
skeleton by a bony stalk Osteosarcoma (Osteogenic Sarcoma) - is the
 Exostoses or excessive bone growth may second most common type of malignant bone
appear as singular or multiple lesions tumor which arises from osteoblasts
and are normally diagnosed in childhood
or adolescence  Is a highly aggressive bone forming
neoplasm most often located in bone
Osteoma - a less frequent benign growth most marrow
commonly located in the skull  As the tumor grows from the
 Composed of very dense, metaphysis, it lifts the periosteum from
wellcircumscribed, normal bone tissue the cortical bone and lays down spicules
that usually projects into the orbits or of new bone radiating out from the
paranasal sinuses origin, which gives the radiographic
 They are generally slow-growing tumors appearance of a sunray or sunburst
of little significance unless they cause  Space between the cortex of the
obstruction, impinge on the brain or eye, metaphysis and the displaced
or interfere with the oral cavity periosteum and is termed a periosteal
 Hyperostosis Frontalis Interna is a term reaction
associated with osteoma of the skull
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Ewing Sarcoma - Primary malignant bone tumor

occurs at a younger age than any other primary
malignant bone neoplasm, usually between the
ages of 5 and 15 years, and rarely after age 30
years
 Ewing sarcoma arises from the
medullary canal and involves bone more
diffusely, giving rise to uniform
thickening of bone
 These lesions tend to be very extensive,
often involving the entire shaft of a long
bone
 Tend to affect the extremities and the
pelvis
 This process often gives a classic
onionskin or laminated appearance
radiographically
Chondrosarcoma - is a malignant tumor of
cartilaginous origin and is composed of atypical
cartilage
 Approximately 10% of all malignant
tumors of the skeletal system are
chondrosarcomas
 Common locations for chondrosarcoma
are the pelvis, shoulder, and ribs
 Men are three times more likely than
women to develop chondrosarcoma,
and it is more common in older adults
 These lesions have the ability to implant
or seed into surrounding soft tissue, so
careful excision is necessary
 Radiographically, shows irregular or
circular radiolucencies in combination
with granular areas of calcification.
These tumors cause destruction and
penetration of the cortex and extension
into surrounding soft tissue.