All issues > Volume 43(7); 2000

Case Report

J Korean Pediatr Soc. 2000;43(7):1006-1011. Published online July 15, 2000.

A Case of Apert`s Syndrome(Acrocophalosyndactyly) with Fibroblast Growth Factor Receptor 2 Exon Ⅲa Mutation

Hyung Su HS K¹, Pyl Soon PS Yang¹, Jee Yeoun JY Kang¹, Ok Young OY Kim¹, Chul Hae CH Ku¹, Wha Mo WM Lee¹

¹Department of Pediatrics, Pusan Medical Center, Pusan, Korea

Abstract

Apert syndrome is an uncommon congenital disorder characterized by malformation of the skull in association with symmetrical syndactyly of both hands and feet. This syndrome is autosomal dominant. The original description was presented by Apert in 1906. Since then more than 200 cases have been reported in the world. Recently, we experienced a case of newhorn male infant with congenital anomalies of the skull and extremities. Molecular biologically, he was found to have Ser252Try mutation in the FGFR2 exonⅢa. A brief review of literature was made.

Keywords :Apert Syndrome, Acrocephalosyndactyly, Fibroblast growth factor receptor 2 gene(FGFR2)