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Collaborative Hypertext of Radiology

Musculoskeletal system

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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


 

Related CHORUS documents:
Wormian bones
osteopetrosis (Albers-Schoenberg disease)
acro-osteolysis
cleidocranial dysostosis
diffuse osteosclerosis (dense bone)
progeria (Hutchinson-Gilford) syndrome

 

Copyright © 2013, Charles E. Kahn, Jr.