Autosomal recessive congenital cerebellar hypoplasia.
We report three sibling pairs with congenital cerebellar hypoplasia. All six children presented in the first years of life with delays in motor and language development. All patients showed cerebellar and/or vermal dysfunction and, on formal psychometric testing, cognitive abilities ranged from normal to moderately retarded. Abnormalities on CT scan ranged from prominent valleculla to an enlarged cisterna magna with hypoplasia of the cerebellar hemispheres and vermis. The pedigrees are consistent with autosomal recessive inheritance.
D000293:Adolescent; D002531:Cerebellum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002547:Cerebral Palsy / Q000151:congenital / Q000235:genetics; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010375:Pedigree; D014057:Tomography, X-Ray Computed