Autosomal recessive type I lissencephaly.
Indian J Pediatr
;
2007 Feb; 74(2): 199-201
Article
in English
| 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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Abnormalities, Multiple
/
Brain Diseases
/
Female
/
Humans
/
Male
/
Magnetic Resonance Imaging
/
Cerebral Cortex
/
Child
/
Follow-Up Studies
/
Chromosome Aberrations
Type of study:
Etiology study
/
Observational study
/
Prognostic study
/
Risk factors
Language:
English
Journal:
Indian J Pediatr
Year:
2007
Type:
Article
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