A case of Apert's Syndrome(Acrocophalosyndactyly) with Fibroblast Growth Factor Receptor 2 Exon IIIa Mutation.
- Author:
Hyung Su KIM
1
;
Pyl Soon YANG
;
Jee Yeoun KANG
;
Ok Young KIM
;
Chul Hae KU
;
Wha Mo LEE
Author Information
1. Department of Pediatrics, Pusan Medical Center, Pusan, Korea.
- Publication Type:Case Report
- Keywords:
Apert Syndrome;
Acrocephalosyndactyly;
Fibroblast growth factor receptor 2 gene (FGFR2)
- MeSH:
Acrocephalosyndactylia;
Congenital, Hereditary, and Neonatal Diseases and Abnormalities;
Extremities;
Fibroblast Growth Factors*;
Fibroblasts*;
Foot;
Hand;
Humans;
Infant;
Male;
Receptor, Fibroblast Growth Factor, Type 2*;
Receptors, Fibroblast Growth Factor*;
Skull;
Syndactyly
- From:Journal of the Korean Pediatric Society
2000;43(7):1006-1011
- CountryRepublic of Korea
- Language:Korean
-
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 autosornal 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.
