Léri-Weill dyschondrosteosis

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

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↑ 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.

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[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.

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