A Case of Leri-Weill Syndrome.
- Author:
Sung Eun EUN
;
Hae Jin PARK
;
Min Ho JUNG
;
Byung Churl LEE
- Publication Type:Case Report
- Keywords:
Leri-Weill syndrome;
Dyschondrosteosis;
Madelung deformity;
Short stature homeobox-containing gene
- MeSH:
Child;
Congenital Abnormalities;
Female;
Forearm;
Haploinsufficiency;
Humans;
Karyotype;
Leg;
Population Characteristics;
Radius
- From:Journal of Korean Society of Pediatric Endocrinology
2001;6(2):165-170
- CountryRepublic of Korea
- Language:Korean
-
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.
