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Autosomal Dominant Sensorineural Hearing Loss Further Temporal Bone Findings

Umang Khetarpal, MD
Arch Otolaryngol Head Neck Surg. 1993;119(1):106-108. doi:10.1001/archotol.1993.01880130108016.
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In a previous publication, my colleagues and I1 described the audiologic and temporal bone characteristics of some affected members in two kindreds with autosomal dominant progressive sensorineural hearing loss.1 The pedigree and audiologic and temporal bone findings of kindred 1 are briefly summarized here, and additional temporal bone findings are described.

PREVIOUS FINDINGS  Kindred 1 consists of 74 members from four generations. The hearing status of 26 members is unknown. Of the 23 affected members, 12 are male and 11 are female. The pattern of trait inheritance is autosomal dominant, with almost complete penetrance. By history and analysis of available audiograms of affected and unaffected individuals, we determined that the hearing loss begins in the early 20s. None of the fourth-generation members have attained the age of 20 years and, presumably for this reason, have normal hearing. The hearing loss is progressive, high frequencies being affected first, followed


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