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Hearing loss in Townes-Brocks syndrome
1Division of Otolaryngology-Head and Neck Surgery, School of Medicine, University of Wisconsin.
Summary
Townes-Brocks syndrome causes ear, hand, foot, anus, and kidney anomalies. This study details the otologic and audiologic findings in six family members with this genetic disorder.
Area of Science:
- Genetics
- Otolaryngology
- Audiology
Background:
- Townes-Brocks syndrome is an autosomal dominant disorder.
- It presents with multiple congenital anomalies, including ear, hand, foot, anus, and kidney defects.
- Otologic manifestations include lop ear, preauricular skin tags, ossicular abnormalities, and hearing loss.
Purpose of the Study:
- To describe the otologic manifestations of Townes-Brocks syndrome.
- To analyze the audiologic findings in affected individuals.
- To characterize the progressive nature of hearing loss in this syndrome.
Main Methods:
- Case series of six family members with Townes-Brocks syndrome.
- Clinical examination of otologic features.
- Audiologic assessments including pure-tone audiometry and tympanometry.
Main Results:
- Hearing loss is predominantly sensorineural, affecting high frequencies.
- A variable conductive component is present.
- The sensorineural hearing loss is slowly progressive, worsening from mild in childhood to moderate in adulthood.
Conclusions:
- Townes-Brocks syndrome has significant otologic and audiologic consequences.
- Progressive sensorineural hearing loss is a key feature requiring long-term monitoring.
- Comprehensive audiological evaluation is crucial for managing patients with Townes-Brocks syndrome.