A presumptive new variant of Norrie's disease.
The present report describes a Brazilian Negro sibship with six males affected by a presumptive new variant of Norrie's disease, an X-linked congenital oculo-acoustical-cerebral degeneration. In addition to the typical stigmata of the disease, all the patients were microcephalic and two of them had cryptorchidism. Possible non-genetic aetiology was investigated with negative results. Xg blood group studies were informative and the lod scores are given, together with those for two previously reported families with Norrie's disease.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D014644:Genetic Variation; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012162:Retinal Degeneration / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome