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Marci M. Lesperance, MD; Kenneth M. Grundfast, MD; Kenneth N. Rosenbaum, MD

Arch Otolaryngol Head Neck Surg. 1998;124:193-196.

Objective  To determine if haploinsufficiency for chromosome 4p16.3 in Wolf-Hirschhorn syndrome (WHS) is associated with cochlear hearing loss.

Design  Case series.

Setting  Tertiary care center.

Patients  Six patients with WHS were identified through a database and charts were retrospectively reviewed.

Main Outcome Measures  Presence of sensorineural hearing loss as assessed by brainstem auditory evoked response.

Results  One of the 6 patients had sensorineural hearing loss. Three of the 6 patients had chronic otitis media with effusion and underwent bilateral tympanostomy tube placement; 2 of these 3 had cleft lip and palate, and 1 had a bifid uvula. One of the 6 patients had spontaneous nystagmus. Five of the 6 patients had preauricular and/or auricular abnormalities.

Conclusions  More than 25 genes for nonsyndromic hereditary hearing impairment have been mapped. One of these genes, DFNA6, was identified through linkage analysis of a family with dominant, progressive, low-frequency sensorineural hearing loss. DFNA6 maps to chromosome 4p16.3, a region that is partially deleted in patients with WHS. In our series, we identified the second patient with WHS in the literature with bilateral sensorineural hearing loss. The incidence and type of otologic findings are consistent with those reported in the literature. Analysis of patients with chromosomal rearrangements represents one strategy toward identifying candidate genes for genetic hearing impairment.

From the Departments of Pediatric Otolaryngology– Head and Neck Surgery (Drs Lesperance and Grundfast) and Medical Genetics (Dr Rosenbaum), Children's National Medical Center, Washington, DC. Dr Lesperance is now with the Department of Otolaryngology–Head and Neck Surgery, Mott Hospital, Ann Arbor, Mich; Dr Grundfast is now with the Department of Otolaryngology, Georgetown University Hospital, Washington, DC; and Dr Rosenbaum is now with the Center for Medical Genetics, Rockville, Md.

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