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CHORUS

Collaborative Hypertext of Radiology

Multisystem entities

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mucopolysaccharidoses

abnormal elaboration + storage of mucopolysaccharides
  • autosomal recessive (except Hunter [type II], X-linked recessive)

Features:
  • "dysostosis multiplex" (wide medial clavicle, flat ribs, etc.)
  • short stature
  • hepatosplenomegaly
  • coarse facies, ocular disease

Types:
    I
    Hurler / Scheie
    II
    Hunter
    III
    Sanfilippo
    IV
    Morquio
    VI
    Maroteaux-Lamy

Charles E. Kahn, Jr., MD  -  2 February 1995
Last updated:  1 October 2013


 

Related CHORUS documents:
Hurler's syndrome
Morquio's disease
J-shaped sella
pelvis
claw hand
bullet shaped vertebrae

 

Copyright © 2013, Charles E. Kahn, Jr.