CHORUS
Collaborative Hypertext of Radiology
Musculoskeletal system
About CHORUS
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pyknodysostosis
- autosomal recessive
- dense, sclerotic bones
[Cf: osteopetrosis (sporadic, not inherited)]
Features:
- open cranial sutures + fontanelles
- Wormian bones
- dolichocephaly
- sclerotic vertebrae
- fractured long bones
- short, stubby hands
- partial agenesis/aplasia of terminal phalanges
[simulates acro-osteolysis]
Charles E. Kahn, Jr., MD - 2 February 1995
Last updated: 1 October 2013
Copyright © 2013, Charles E. Kahn, Jr.
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