A Case of Weaver Syndrome.
- Author:
Jun Chul BYUN
1
;
Chun Soo KIM
;
Sang Lak LEE
;
Tae Chan KWON
;
Hee Jung LEE
Author Information
1. Department of Pediatrics, Keimyung University School of Medicine, Daegu, Korea. lsl@dsmc.or.kr
- Publication Type:Case Report
- Keywords:
Weaver syndrome;
Overgrowth syndrome
- MeSH:
Facies;
Heart Diseases;
Korea;
Macrocephaly;
Muscle Hypotonia
- From:Korean Journal of Pediatrics
2004;47(11):1216-1219
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Weaver syndrome is a very rare overgrowth syndrome with accelerated skeletal maturation, unusual facies and clinodactyly. We experienced an extremely rare case of Weaver syndrome in Korea. The clinical manifestations were macrocephaly, unusal facies, simian crease, clinodactyly, decreased muscle tone, accelerated bone age and congenital heart diseases. We report this with a brief review of related literature.
