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Hurler's syndrome CHORUS

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Location: http://chorus.rad.mcw.edu/doc/00165.html

Description: mucopolysaccharidosis (MPS) type I (aka: gargoylism)
* autosomal recessive deficiency of X-L iduronidase
* 1 in 10000 births
* prognosis: death in early teens
* dwarfism
* mental retardation
* kyphosis
* long bones are short and thick
* phalanges of hands: coarse texture, wide shafts, tapered proximal ends (esp. metacarpals)
* hepatosplenomegaly
* thick everted lips, large tongue, small malformed teeth
* J-shaped sella

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

Language: English

Submitted by: admin
Hits: 1171
Added: Thu Jan 31 2002
Last Modified: Fri Jul 24 2009