A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene.
Pediatr Neurosurg
; 37(2): 97-9, 2002 Aug.
Article
en En
| MEDLINE
| ID: mdl-12145519
ABSTRACT
This paper reports a case of Beare-Stevenson cutis gyrata syndrome confirmed by DNA analysis of the patient's fibroblast growth factor receptor (FGFR) genes. At birth, the patient had ocular proptosis, a red nevus with skin tags on her forehead and an umbilical stump. She developed craniosynostosis, craniofacial dysmorphism and hydrocephalus. Her treatment included forehead and facial advancement and a ventriculoperitoneal shunt. Analysis of the FGFR genes revealed that she was heterozygous for a missense mutation in exon 10 for the FGFR2 protein, resulting in an amino acid substitution of cysteine for tyrosine at residue 375 (Tyr375Cys). This is the fourth case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the FGFR genes.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Canal Anal
/
Cordón Umbilical
/
Mutación Puntual
/
Craneosinostosis
/
Acantosis Nigricans
/
Genitales Femeninos
Límite:
Child, preschool
/
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Pediatr Neurosurg
Asunto de la revista:
NEUROCIRURGIA
/
PEDIATRIA
Año:
2002
Tipo del documento:
Article
País de afiliación:
Japón