Severe meningeal calcification in a Crouzon patient carrying a mutant C342W FGFR2.
J Craniofac Surg
; 26(2): 557-9, 2015 Mar.
Article
em En
| MEDLINE
| ID: mdl-25692891
ABSTRACT
Crouzon is an autosomal dominant craniosynostosis syndrome caused by mutation in the fibroblast growth factor receptor (FGFR)-2 gene. Recent findings from animal studies imply a critical role for FGFs in the regulation of mineralization. Here, we presented a 5-year-old girl with severe meningeal calcification. Subsequently, we analyzed FGFR2 mutation and identified a mutation of Cys342Tyr. The findings suggest that abnormal calcification was atypical phenotype of Crouzon patients with Cys342Tyr mutation in FGFR2.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Calcinose
/
Disostose Craniofacial
/
Receptor Tipo 2 de Fator de Crescimento de Fibroblastos
/
Triagem de Portadores Genéticos
/
Meninges
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Animals
/
Child
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article