[Hallgren's syndrome in one family: retinitis pigmentosa, congenital deafness and ataxia].
A family of 6 siblings, 4 of which have Hallgren's syndrome, i.e., retinitis pigmentosa, congenital deafness and ataxia is described. Hallgren's series in Sweden is referred to. This affection was ascribed by Hallgren to a single gene with almost complete penetrance. However, 3 brothers of the present series show neurological anomalies not present in the Swedish cases.
D000328:Adult; D001259:Ataxia / Q000235:genetics*; D002677:Chile; D003638:Deafness / Q000151:congenital* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome
Sindrome de Hallgren en una familia: retinitis pigmentosa, sordera congénita y ataxia.