- Lйri-Weill dyschondrosteosis (syndrome)
- Lй·ri-Weill dyschondrosteosis (syndrome) (la-reґ vīlґ) [A. Lйri; Jean A. Weill, French physician, 20th century] see under dyschondrosteosis.
Medical dictionary. 2011.
Lйri-Weill dyschondrosteosis (syndrome)
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Lйri-Weill dyschondrosteosis — a dominantly inherited syndrome caused by mutations in pseudoautosomal region 1 (locus: Ypter p11.2, Xpter p22.32), characterized by short stature, mesomelic shortening, and Madelung deformity. Mutations affect the SHOX and SHOXY genes, which… … Medical dictionary
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
dyschondrosteosis — A skeletal dysplasia, more severe in females and with a female preponderance, characterized by bowing of radius, dorsal dislocation of the distal ulna with limited movement of the elbow and wrist ( … Medical dictionary
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Lйri-Weill syndrome — see under dyschondrosteosis … Medical dictionary
Short stature homeobox gene — or SHOX is a gene on the X chromosome and Y chromosome which is associated with short stature in humans if mutated or present in only one copy (haploinsufficiency). PathologyThe gene was first found during a search for the cause of short stature… … Wikipedia
