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Treacher Collins syndrome: otologic and auditory management.
J Am Acad Audiol. 1995 Jan; 6(1):93-102.JA

Abstract

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.

Authors+Show Affiliations

Department of Otolaryngology-Head and Neck Surgery, University of Texas-Houston, Health Science Center 77030.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7696682

Citation

Jahrsdoerfer, R A., and J T. Jacobson. "Treacher Collins Syndrome: Otologic and Auditory Management." Journal of the American Academy of Audiology, vol. 6, no. 1, 1995, pp. 93-102.
Jahrsdoerfer RA, Jacobson JT. Treacher Collins syndrome: otologic and auditory management. J Am Acad Audiol. 1995;6(1):93-102.
Jahrsdoerfer, R. A., & Jacobson, J. T. (1995). Treacher Collins syndrome: otologic and auditory management. Journal of the American Academy of Audiology, 6(1), 93-102.
Jahrsdoerfer RA, Jacobson JT. Treacher Collins Syndrome: Otologic and Auditory Management. J Am Acad Audiol. 1995;6(1):93-102. PubMed PMID: 7696682.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Treacher Collins syndrome: otologic and auditory management. AU - Jahrsdoerfer,R A, AU - Jacobson,J T, PY - 1995/1/1/pubmed PY - 1995/1/1/medline PY - 1995/1/1/entrez SP - 93 EP - 102 JF - Journal of the American Academy of Audiology JO - J Am Acad Audiol VL - 6 IS - 1 N2 - 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. SN - 1050-0545 UR - https://www.unboundmedicine.com/medline/citation/7696682/Treacher_Collins_syndrome:_otologic_and_auditory_management_ L2 - http://www.diseaseinfosearch.org/result/7175 DB - PRIME DP - Unbound Medicine ER -