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Treacher Collins syndrome: otologic and auditory management
R A Jahrsdoerfer1, J T Jacobson
1Department of Otolaryngology-Head and Neck Surgery, University of Texas-Houston, Health Science Center 77030.
Journal of the American Academy of Audiology
|January 1, 1995
Summary
Treacher Collins syndrome (TCS) is a genetic disorder affecting head and neck development. This article details the diagnosis and management of otologic and audiologic features in TCS patients.
Area of Science:
- Genetics
- Otolaryngology
- Audiology
Background:
- Treacher Collins syndrome (TCS) is an autosomal dominant genetic disorder.
- Characterized by craniofacial abnormalities, particularly in the head and neck region.
- Full penetrance with variable expressivity, with a reported prevalence of 1 in 50,000 live births.
Observation:
- TCS involves bilateral abnormalities of the external ear, including the pinnae, auditory canal, tympanic membrane, and middle ear.
- Microtia is observed in up to 85% of cases, with stenosis or atresia in one-third.
- Patients typically present with significant conductive hearing loss, often with a high-frequency sensory component.
Findings:
- Genetic locus identified on chromosome 5q.
- High rate of new mutations (60%) contributing to TCS occurrences.
- Detailed description of otologic and audiologic manifestations.
Implications:
- Highlights the need for comprehensive otologic and audiologic evaluation in TCS diagnosis.
- Informs clinical management strategies for hearing loss and related complications.
- Contributes to understanding the genetic basis and phenotypic spectrum of TCS.
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