Periventricular neuronal heterotopia, oro-facio-digital anomalies, and microphthalmia. A new syndrome?
Clin Dysmorphol
; 14(4): 197-201, 2005 Oct.
Article
em En
| MEDLINE
| ID: mdl-16155422
ABSTRACT
Congenital malformations involving the face, oral cavity, and digits are the main findings in the oro-facio-digital (OFD) syndromes. Various eye anomalies and central nervous system involvement have also been reported in this condition. Here we report on a Brazilian boy with features belonging to the clinical spectrum of the OFD syndromes. He also had additional findings of periventricular nodular heterotopia (PVNH), asymmetric limb involvement, and microphthalmia. This unusual pattern of anomalies has not been reported previously and appears to be unique.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndromes Orofaciodigitais
/
Anormalidades Múltiplas
/
Ventrículos Cerebrais
/
Microftalmia
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Humans
/
Male
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Ano de publicação:
2005
Tipo de documento:
Article