title: [Norrie-Wardburg syndrome].
abstract: We describe a case of a 25-year old patient with typical Norrie-Warburg Syndrome. From the first year of his life he was found to be blind, with bilateral sensorineural loss of hearing. Audiological examination showed symmetrical moderate bilateral sensorineural hearing loss. His hearing loss was refractory to treatment for the last eight years. Because of timely diagnosis of hearing loss and timely fitting of a hearing aid, the patient could study at school and graduate from university education. Disease carriers who are clinically healthy can be identified only via chromosome analysis.
authors.affiliation: Universitäts-HNO-Klinik, Ioannina, Griechenland.
authors.forename: A
authors.initials: A
authors.lastname: Skevas
authors.forename: I
authors.initials: I
authors.lastname: Kastanioudakis
authors.forename: B
authors.initials: B
authors.lastname: Daniilidis
authors.forename: G
authors.initials: G
authors.lastname: Exarchakos
mesh_terms: D000328:Adult; D001301:Audiometry, Pure-Tone; D001302:Audiometry, Speech; D003638:Deafness / Q000175:diagnosis / Q000235:genetics*; D005134:Eye Neoplasms / Q000175:diagnosis / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome
vernacular_title: Norrie-Warburg-Syndrom.