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diastrophic dwarfism CHORUS

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Description: 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
o "hitch-hiker's thumb" - widely abducted
o hypoplastic first metacarpal
o other metacarpals too broad, esp. at growing end
o carpal bones with too many centers ossified

Type: Reference Material
Author/Contact: Brian Funaki, MD
Institution: CHORUS
Primary Subject/Category:

Language: English

Submitted by: admin
Hits: 1173
Added: Thu Jan 31 2002
Last Modified: Fri Jul 24 2009