Hearing loss in oto-spondylo-megaepiphyseal dysplasia (OSMED): case studies.
Oto-spondylo-megaepiphyseal dysplasia (OSMED) is considered to be an autosomal recessive disorder characterized by sensorineural hearing loss, short extremities in spite of normal body length, and abnormally thick joints. We present audiologic results and follow-up of two siblings (normal mother, affected father, 3 of 4 affected children). Given the severity of the hearing loss and, in some cases, severe myopia, early audiologic intervention is highly desirable.
Department of Speech Pathology and Audiology, Western Michigan University, Kalamazoo 49008-3825, USA.
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B
Katbamna
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MK
Westbrook
D001302:Audiometry, Speech; D002648:Child; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D009216:Myopia / Q000150:complications; D010009:Osteochondrodysplasias / Q000150:complications* / Q000235:genetics; D010375:Pedigree; D012720:Severity of Illness Index