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Medical Term:


Pronunciation: dis'kon-dros'te-o'sis

Definition: 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.

Synonym(s): Léri pleonosteosis, Leri-Weill disease, Leri-Weill syndrome

[dys- + G. chondros, cartilage, + osteon, bone, + -osis, condition]

© Copyright 2016 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.