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diastrophic dwarfism


short-limbed dwarfism ("diastrophic" means twisted, thus scoliosis)

x-ray features:

  • short flared metaphyses with flattened epiphyses in tubular bones of extremities
  • equinovarus deformity of feet -- major joints subluxed
  • spine: kyphoscoliosis with gradual decrease in interpediculate distance toward caudal end of L-spine
  • hands
    • "hitch-hiker's thumb" - widely abducted
    • hypoplastic first metacarpal
    • other metacarpals too broad, esp. at growing end
    • carpal bones with too many centers ossified


Brian Funaki, MD  -  6 February 1995
Last updated:  1 October 2013


 

Related CHORUS documents:
achondroplasia
progeria (Hutchinson-Gilford) syndrome
amiodarone
focal gigantism
chronic granulomatous disease of childhood
Hurler's syndrome

 

Copyright © 2013, Charles E. Kahn, Jr.