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 (wrist deformity is called Madelung deformity), and mesomelic dwarfism; dominant inheritance, caused by mutation in the short stature homeobox gene (SHOX) on the pseudoautosomal region of Xp. Langer mesomelic dysplasia, the homozygous form of dyschondrosteosis, is also caused by homozygous mutations in the SHOX gene.
[dys- + G. chondros, cartilage, + osteon, bone, + -osis, condition]
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[André Leri, Fr. physician, 1875–1930]
A form of hereditary physical malformation characterized by upward slanting palpebral fissures, broad thumbs, short stature, and flexion contractures of the fingers.
Medical Dictionary, © 2009 Farlex and Partners
Leri,André, French orthopedic surgeon, 1875-1930.
Leri pleonosteosis - Synonym(s): dyschondrosteosis
Leri sign - voluntary flexion of the elbow is impossible in a case of hemiplegia when the wrist on that side is passively flexed.
Leri-Weill disease - Synonym(s): dyschondrosteosis
Leri-Weill syndrome - Synonym(s): dyschondrosteosis
Marie-Leri syndrome - see under Marie, Pierre
Medical Eponyms © Farlex 2012