A Case of Leri-Weill Syndrome / 대한소아내분비학회지
Journal of Korean Society of Pediatric Endocrinology
;
: 165-170, 2001.
Article
Dans Coréen
| WPRIM
| ID: wpr-190206
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Radius
/
Malformations
/
Caractéristiques de la population
/
Haploinsuffisance
/
Caryotype
/
Avant-bras
/
Jambe
Limites du sujet:
Enfant
/
Femelle
/
Humains
langue:
Coréen
Texte intégral:
Journal of Korean Society of Pediatric Endocrinology
Année:
2001
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS