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pyknodysostosis CHORUS

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Location: http://chorus.rad.mcw.edu/doc/00343.html

Description: * 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]

Type: Reference Material
Author/Contact: Charles E. Kahn, Jr., MD
Institution: CHORUS
Primary Subject/Category:

Language: English

Submitted by: admin
Hits: 501
Added: Thu Jan 31 2002
Last Modified: Mon Aug 03 2009