Korean J Pediatr.
2004 Nov;47(11):1216-1219.
A Case of Weaver Syndrome
- Affiliations
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- 1Department of Pediatrics, Keimyung University School of Medicine, Daegu, Korea. lsl@dsmc.or.kr
- 2Department of Diagnostic Radiology, Keimyung University School of Medicine, Daegu, Korea.
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.