A Case of Craniofrontonasal Dysplasia Diagnosed at Birth
Journal of the Korean Pediatric Society
; : 1044-1046, 2003.
Artigo
em Coreano
| WPRIM (Pacífico Ocidental)
| ID: wpr-24989
Biblioteca responsável:
WPRO
ABSTRACT
Craniofrontonasal dysplasia(CFND), a rare congenital syndrome, is characterized by varying degrees of frontonasal dysplasia, craniosynostosis, and variable extracranial abnormalities. It was first reported by Cohen in 1979. The inheritance pattern is not straightforward. Although all modes of Mendelian inheritance have been suggested, the most plausible explanation is that this is an X-linked condition with the unusual situation of complete expression in females, and minimal to no expression in males. In our case, CFND was diagnosed in a female neonate who had unilateral coronal craniosynostosis, frontal bossing, orbital hypertelorism, broad nasal root, clefting nasal tip, corpus callosum agenesis and mild extremity abnormalities.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Órbita
/
Testamentos
/
Craniossinostoses
/
Parto
/
Padrões de Herança
/
Extremidades
/
Agenesia do Corpo Caloso
/
Hipertelorismo
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Masculino
/
Recém-Nascido
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Ano de publicação:
2003
Tipo de documento:
Artigo