oi radiologic findings
TRANSCRIPT
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Osteogenesis
Radiologic Findings
Imania, S.Ked
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Osteogenesis imperfecta (OI) also known
as Brittle Bone Disease, heritable disorderof connective tissue with 4 subtypes.
Hallmark feature is bone fragility, with a
tendency to fracture from minimal trauma.
All types of OI are caused by structural or
quantitative defects in type I collagen, the
primary component of the extracellular
matrix of bone and skin.
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Incidence
Incidence of forms of OI recognizable at
birth is 1/20,000.
Incidence of mild forms not recognizable
until later in life is ~1/21,000
OI + Marfans Syndrome are the most
common heritable connective tissue
disorders
No racial or ethnic predilection
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Subtypes of OI
TYPE INHERITANCE CHARACTERIZATION
I AD
Mild fragility without deformity,
short stature, (+) blue-gray
sclera
II AD OR AR Perinatal lethal
III AD OR AR Severe, progressive deformity
IV ADSkeletal fragility and
osteoporosis, bowing
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Type I: most common/mildest type, less collagen
than normal, with little bone deformity, although
the bones are nevertheless fragile, may be
bluish discoloration of the sclera of the eyes.
Type II: most severe form with improperly
formed collagen, IU fractures are common,
many babies are stillborn or die soon after
delivery.
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Type III: severe bone deformities, infants are
often born w/ fractures, discoloration of the
sclerae may not occur, compatible with longer
life, generally of below-average ht, may haveskeletal +/or respiratory problems + brittle teeth
Type IV: moderately severe, bones are fragile +
sclerae may be of normal color, bone
abnormalities are mild to moderate in severity,
adults are shorter than average + may have
brittle teeth.
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History/Physical
Points in OIHistory/Physical
frequent fractures, minimal trauma
deafness
blue sclerae
easy bruisability
joint laxity
discolored or softened teeth (dentinogenesis imperfecta)
short stature
abnormal skull shape
heat intolerance or excessive sweating
family history of above features
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X-ray Findings:
Fractures of all types occur in OI
No consistent pattern of fracturing, many
individuals have long fracture-free periods
Can be seen in antenatal US + diagnosed
with CVS
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Wormian Bones
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Basilar Invagination
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Curved, thin bones with diminished bone density
(arrows) and fracture of the middle third of the tibia
(double arrow) are visible.
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Osteopenia
? Transverse fracture mid femoral
diaphysis? Mild bowing abnormality present
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Bones appear osteopenic, several rib
fracture L
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Ribs are small irregular, ribbon-like healing
fractures
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SPINAL FINDINGSspine may show flattening of vertebral bodies, (which may be
biconcave or wedge shaped), severe kyphoscoliosis
+/or scoliosis Posterior rib fractures near the vertebral bodies arecommonly seen
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