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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).[1]
It is often caused by mutations in the SHOX gene found in the pseudoautosomal region PAR1 of the X and Y chromosomes. [2]
Variant deletions have been identified.[3]
LWD was first described in 1929 by André Léri and Jean A. Weill.[4][5]
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