The First Korean Case of Beare-Stevenson Syndrome with a Tyr375Cys Mutation in the Fibroblast Growth Factor Receptor 2 Gene
Journal of Korean Medical Science
;
: 352-356, 2007.
Artigo
em Inglês
| WPRIM
| ID: wpr-111552
ABSTRACT
Here we report the first case of a Korean infant with a cloverleaf-shaped craniosynostosis, in which the diagnosis of Beare-Stevenson syndrome was suspected upon observation of the typical morphological features. This infant exhibited craniofacial anomalies, ocular proptosis, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, hypospadia, and sacral skin tag coupled with dermal sinus tract. Brain magnetic resonance imaging revealed that the patient also had non-communicating hydrocephalus with Chiari malformation. This is the 8th report of Beare-Stevenson syndrome in the literature, which was confirmed by the detection of a Tyr375Cys mutation in the fibroblast growth factor receptor 2 (FGFR2) gene.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Síndrome
/
Anormalidades Múltiplas
/
Análise Mutacional de DNA
/
Anormalidades Craniofaciais
/
Predisposição Genética para Doença
/
Craniossinostoses
/
Polimorfismo de Nucleotídeo Único
/
Receptor Tipo 2 de Fator de Crescimento de Fibroblastos
/
Coreia (Geográfico)
/
Mutação
Limite:
Humanos
/
Masculino
/
Recém-Nascido
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2007
Tipo de documento:
Artigo
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