| pyknodysostosis | <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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| pyknodysostosis |
an autosomal recessive symptom complex consisting of dwarfism, osteopetrosis, partial agenesis of terminal digits of hands and feet, cranial anomalies, frontal and occipital bossing, and hypoplasia of the angle of the mandible.
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