The anterior segment anomalies in the Warburg syndrome. A study of new cases.
The Warburg syndrome is a primary lethal neurodysplasia recently defined with autosomal recessive inheritance. The clinical diagnosis is based on the association of brain alterations with ocular defects, among which the anterior segment anomalies and the retinal dysplasia appear to be the most significant. The authors report a clinical and histopathological study on personal observations.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000869:Anterior Eye Segment / Q000002:abnormalities*; D001921:Brain / Q000002:abnormalities*; D002386:Cataract / Q000151:congenital* / Q000235:genetics; D004677:Encephalocele / Q000235:genetics; D005260:Female; D005804:Genes, Lethal; D005808:Genes, Recessive; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012160:Retina / Q000002:abnormalities*; D013577:Syndrome