Congenital hydrocephalus and eye abnormalities with severe developmental brain defects: Warburg's syndrome.
Five patients are reported with Warburg's syndrome, characterized by: (1) congenital hydrocephalus, (2) severe neonatal neurological dysfunction, (3) abnormalities of the anterior and posterior chambers of the eyes, (4) absence of known cause, and (5) severe developmental abnormalities of cortical gyration and architectonics. Fourteen similar published cases are reviewed. The syndrome can be diagnosed during life on the conjunction of the first four features listed. Evidence is adduced that this syndrome is a genetically determined condition with an autosomal recessive mode of inheritance and with a 25% recurrence risk for offspring of the parents of an affected infant.
D000015:Abnormalities, Multiple / Q000473:pathology; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D005124:Eye Abnormalities; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D006849:Hydrocephalus / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012160:Retina / Q000002:abnormalities; D013577:Syndrome