J Korean Soc Pediatr Endocrinol.  2001 Dec;6(2):165-170.

A Case of Leri-Weill Syndrome

• Eun SE
• Park HJ
• Jung MH
• Lee BC

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.

Keyword

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

MeSH Terms

Child
Congenital Abnormalities
Female
Forearm
Haploinsufficiency
Humans
Karyotype
Leg
Population Characteristics
Radius