title: Hereditary deafness in children: diagnosis and a family report.
abstract: A family with hereditary deafness is presented. The mother and ten of her children suffer sensorineural hearing loss. The maternal grandparents and four uncles and aunts were all hard of hearing. Clinical examination revealed no accompanying gross anomalies. In one child, Mondini deformity is the cause of deafness. In the rest of the family isolated membranous labyrinth deformity is suggested. The methods of early diagnosis are discussed, among which polytomography proved the most reliable for diagnosing Mondini and Michel deformities. We demonstrated how early fitting of hearing aids is essential for language acquisition and speech development. Clinical ability to differentiate between subtypes of inner ear hereditary deafness not accompanied by gross anomalies is limited. This problem and the problem arising from late diagnosis are illustrated by a report on a family of ten children, nine of whom suffer sensorineural hearing loss.
mesh_terms: D000293:Adolescent; D000328:Adult; D001299:Audiometry; D001309:Auditory Threshold; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D010375:Pedigree; D013067:Speech Perception