Michael P. D'Alessandro, M.D.
Peer Review Status: Internally Peer Reviewed
Etiology/Pathophysiology:
Heritable connective tissue disorder due to abnormal ossification of
membranous and chondral bones.
Pathology:
Not applicable
Imaging Findings:
Radiographic signs include:
Skull has wormian bones and delayed or absent closure of the fontanelles
Clavicles - total or partial absence of one or both clavicles
Pelvis - absent or dysplastic pubic bones, femoral neck dysplasia, wide SI joints, iliac hypoplasia
Hands - long 2nd metacarpal and metatarsal, short distal phalanges
DDX:
References:
See References Chapter.
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