[Klein-Waardenburg syndrome. Report of 3 cases in a family with a review of the literature].
On account of a recently developed tinnitus, a young woman with the characteristic features of Klein-Waardenburg's syndrome (impairment of hearing, partial albinism, telecanthus) was hospitalised. The mother and the sister of the patient were also affected by the syndrome, albeit to a lesser degree. The otological aspects of the disease are described. Additionally, the possible association of this genetically determined disorder with certain other diseases, such as achalasia, Hirschsprung's disease or immunodeficiency, is discussed.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001309:Auditory Threshold; D005260:Female; D006801:Humans; D008875:Middle Aged; D014012:Tinnitus / Q000235:genetics; D014724:Vestibular Function Tests; D014849:Waardenburg Syndrome / Q000175:diagnosis / Q000235:genetics*
Das Klein-Waardenburg-Syndrom. Bericht über drei Fälle aus einer Familie mit Literaturübersicht.