A Case of Leri-Weill Syndrome.

Eun,  Sung Eun; Park,  Hae Jin; Jung,  Min Ho; Lee,  Byung Churl

Ann Pediatr Endocrinol Metab > Volume 6(2); 2001 > Article

Case Report

Journal of Korean Society of Pediatric Endocrinology 2001;6(2): 165-170.

A Case of Leri-Weill Syndrome.

Sung Eun Eun, Hae Jin Park, Min Ho Jung, Byung Churl Lee

Abstract

Leri-Weill syndrome or Leri-Weill dyschondrosteosis represents a short stature syndrome that is characterized by symmetric shortening of the forearms and lower legs and a bilateral shortening and bowing of the radius with a dorsal subluxation of the distal ulna(Madelung deformity). Recent genetic analyses demonstrated that functional haploinsufficiency of SHOX(short stature homeobox-containing gene) accounts for Leri-Weill syndrome. Further studies are needed to explain phenotypic heterogeneity of SHOX defect. We experienced a case of Leri-Weill syndrome in a 11-year-old girl with short stature, who revealed typical Madelung deformity, mesomelic(middle segment) dysplasia, and a karyotype of 46,XX. In cases with dyschondrosteosis or Turner-characteristic dysmorphic skeletal features, detection of SHOX mutation is recommended.

Keywords: Leri-Weill syndrome;Dyschondrosteosis;Madelung deformity;Short stature homeobox-containing gene