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A Case of Weaver Syndrome

Korean Journal of Pediatrics 2004;47(11):1216-1219.
Published online November 15, 2004.
A Case of Weaver Syndrome
Jun Chul Byun1, Chun Soo Kim1, Sang Lak Lee1, Tae Chan Kwon1, Hee Jung Lee2
1Department of Pediatrics, Keimyung University School of Medicine, Daegu, Korea
2Department of Diagnostic Radiology, Keimyung University School of Medicine, Daegu, Korea
Weaver 증후군 1례
변준철1, 김천수1, 이상락1, 권태찬1, 이희정2
1계명대학교 의과대학 소아과학교실
2계명대학교 의과대학 진단방사선과학교실
Sang Lak Lee, Email: lsl@dsmc.or.kr
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.
Key Words: Weaver syndrome, Overgrowth syndrome

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