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Léri-Weill dyschondrosteosis



Léri-Weill dyschondrosteosis
Classification & external resources
ICD-9 756.59
OMIM 127300
DiseasesDB 31950

Léri-Weill dyschondrosteosis or LWD is a rare genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a particular deformity of the forearms (Madelung's deformity).

Causes

It is often caused by mutations in the SHOX gene found in the pseudoautosomal region PAR1 of the X and Y chromosomes.

History

LWD was first described in 1929 by André Léri and Jean A. Weill.[1][2]

References

  1. ^ synd/1662 at Who Named It
  2. ^ A. Léri, J. A. Weill. Une affection congénitale et symétrique du développement osseux. La dyschondrostéose.Bulletins et memoires de la Société medicale des hôpitaux de Paris, 1929, 53: 1491-1494.
 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Léri-Weill_dyschondrosteosis". A list of authors is available in Wikipedia.
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