A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection.
We report two children, the products of a consanguineous union, who died in infancy. Both children had severe microcephaly intracranial calcification, lissencephaly and polymicrogyria.
D002114:Calcinosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics / Q000473:pathology; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D013577:Syndrome