OI Radiologic Findings

7/28/2019 OI Radiologic Findings

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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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OI Radiologic Findings

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