Autosomal recessive type I lissencephaly.
Indian J Pediatr
;
2007 Feb; 74(2): 199-201
Artículo
en Inglés
| IMSEAR
| ID: sea-81922
ABSTRACT
Lissencephaly (LIS) is a brain malformation manifested by a smooth cerebral surface, thickened cortical mantle and microscopic evidence of incomplete neuronal migration, excluding polymicrogyria and other cortical dysplasias. It is important to consider LIS in the diagnosis of developmental delay as many patients may be diagnosed as cerebral palsy. It may have familial occurrence and can occur in sibs of same family often leading to a diagnostic problem. Several lissencephaly syndromes have been described. Here a familial syndrome of lissencephaly is reported. Autosomal recessive inheritance is suggested by recurrence in sibs within the same family, but germ cell mosaicism for a dominant mutation cannot be excluded.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Anomalías Múltiples
/
Encefalopatías
/
Femenino
/
Humanos
/
Masculino
/
Imagen por Resonancia Magnética
/
Corteza Cerebral
/
Niño
/
Estudios de Seguimiento
/
Aberraciones Cromosómicas
Tipo de estudio:
Estudio de etiología
/
Estudio observacional
/
Estudio pronóstico
/
Factores de riesgo
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
2007
Tipo del documento:
Artículo
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