Treacher Collins syndrome: otologic and auditory management.J Am Acad Audiol. 1995 Jan; 6(1):93-102.JA
Treacher Collins syndrome (TCS) is an autosomal dominant genetic disorder, the phenotypic expression of which is seen in the head and neck area. The syndrome has full penetrance but variable expressivity even among family members, and recent investigation has reported gene site on chromosome 5q. TCS has a reported prevalence of 1 in 50,000 live births with about 40 percent of new occurrences resulting from a positive family history and a 60 percent new mutation rate. The clinical features of TCS involve bilateral abnormalities of the pinnae, external auditory canal, tympanic membrane, and middle ear space. Microtia has been reported to be as high as 85 percent, with one third of patients presenting with stenosis or complete atresia. Treacher Collins patients present with maximum conductive hearing loss often compounded by a high-frequency sensory component. This article describes the otologic and audiologic diagnosis and management of TCS.