pyknodysostosismedical dictionary

<radiology> Autosomal recessive, dense, sclerotic bones [Cf: osteopetrosis (sporadic, not inherited)] Features: open cranial sutures and fontanelles, Wormian bones, dolichocephaly, sclerotic vertebrae, fractured long bones, short, stubby hands, partial agenesis/aplasia of terminal phalanges [simulates acro-osteolysis]

(12 Dec 1998)

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