J Korean Pediatr Soc.  2000 Jul;43(7):1006-1011.

A case of Apert's Syndrome(Acrocophalosyndactyly) with Fibroblast Growth Factor Receptor 2 Exon IIIa Mutation

• Kim HS
• Yang PS
• Kang JY
• Kim OY
• Ku CH
• Lee WM

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.

Keyword

Apert Syndrome; Acrocephalosyndactyly; Fibroblast growth factor receptor 2 gene (FGFR2)

MeSH Terms

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
Fibroblast Growth Factors
Receptor, Fibroblast Growth Factor, Type 2
Receptors, Fibroblast Growth Factor