Léri–Weill dyschondrosteosis
Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a bayonet-like deformity of the forearms (Madelung's deformity).[1]
Causes[edit | edit source]
It is caused by mutations in the SHOX gene found in the pseudoautosomal region PAR1 of the X and Y chromosomes, at band Xp22.33 or Yp11.32.[2]
SHOX gene deletions have been identified as the major cause of Leri–Weill syndrome.[3]
Leri–Weill dyschondrosteosis is characterized by mesomelic short stature, with bowing of the radius more so than the ulna in the forearms and bowing of the tibia while sparing the fibula.
Diagnosis[edit | edit source]
Diagnosis is made following genetic blood testing.
Treatment[edit | edit source]
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History[edit | edit source]
LWD was first described in 1929 by André Léri and Jean A. Weill.[4][5]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
