A familial syndrome of central nervous system and ocular malformations.
A family is reported in which three of seven siblings were affected with an association of severe cerebral, cerebellar and ocular malformations. Brain malformations consisted of lissencephaly and the Dandy-Walker anomaly; congenital cataracts, retinal dysgenesis and coloboma of the choroid were found in the eyes. The pathogenesis of these developmental anomalies is probably related to abnormal neuron migration and abnormal closure of fetal fissures, occurring at an early stage of embryonic development. The association of these malformations is unique, and may point to a new malformation syndrome, inherited as an autosomal recessive trait.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002386:Cataract / Q000151:congenital / Q000235:genetics; D002525:Cerebellar Cortex / Q000002:abnormalities* / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities*; D003318:Corneal Opacity / Q000151:congenital / Q000235:genetics; D003616:Dandy-Walker Syndrome / Q000235:genetics*; D004423:Ear / Q000002:abnormalities; D005123:Eye / Q000473:pathology; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D013577:Syndrome