A case of Apert's Syndrome(Acrocophalosyndactyly) with Fibroblast Growth Factor Receptor 2 Exon IIIa Mutation
Journal of the Korean Pediatric Society
;
: 1006-1011, 2000.
Artigo
em Coreano
| WPRIM
| ID: wpr-113878
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Crânio
/
Acrocefalossindactilia
/
Receptores de Fatores de Crescimento de Fibroblastos
/
Sindactilia
/
Receptor Tipo 2 de Fator de Crescimento de Fibroblastos
/
Extremidades
/
Fatores de Crescimento de Fibroblastos
/
Fibroblastos
/
Pé
/
Mãos
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Ano de publicação:
2000
Tipo de documento:
Artigo
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