All issues > Volume 47(11); 2004

Case Report

Korean J Pediatr. 2004;47(11):1216-1219. Published online November 15, 2004.

A Case of Weaver Syndrome

Jun Chul JC Byun¹, Chun Soo CS Kim¹, Sang Lak SL Lee¹, Tae Chan TC Kwon¹, Hee Jung HJ Lee²

¹Department of Pediatrics, Keimyung University School of Medicine, Daegu, Korea
²Department of Diagnostic Radiology, Keimyung University School of Medicine, Daegu, Korea

Correspondence Sang Lak SL Lee ,Email: lsl@dsmc.or.kr

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