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CASE REPORT
Korean J Pediatr 2004 November;47(11) :1216-1219.
A Case of Weaver Syndrome
Jun Chul Byun (Byun JC)1, Chun Soo Kim (Kim CS)1, Sang Lak Lee ( Lee SL)1, Tae Chan Kwon (Kwon TC)1, Hee Jung Lee (Lee HJ)2
1Department of Pediatrics, Keimyung University School of Medicine, Daegu, Korea
2Department of Diagnostic Radiology, Keimyung University School of Medicine, Daegu, Korea
Corresponding Author: Sang Lak Lee ,Email: lsl@dsmc.or.kr
Copyright © 2004 by The Korean Pediatric Society
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.
Keywords: Weaver syndrome | Overgrowth syndrome
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