Case Study and Audiologic Management of a Child With Treacher Collins Syndrome Treacher Collins syndrome (TCS) is an autosomal dominant genetic disorder characterized by dysmorphic features of the face, eyes, mandible, and ears. The gene can either be inherited or can occur from a spontaneous mutation. TCS occurs in 1 out of 50,000 live births with 40% of new occurrences resulting ... Article
Article  |   April 01, 2002
Case Study and Audiologic Management of a Child With Treacher Collins Syndrome
Author Affiliations & Notes
  • Tamara M. Scott
    Riley Hospital for Children, Indianapolis, IN
Article Information
Audiologic / Aural Rehabilitation / Special Populations / Genetic & Congenital Disorders / Articles
Article   |   April 01, 2002
Case Study and Audiologic Management of a Child With Treacher Collins Syndrome
SIG 6 Perspectives on Hearing and Hearing Disorders: Research and Diagnostics, April 2002, Vol. 6, 15-17. doi:10.1044/hhd6.1.15
SIG 6 Perspectives on Hearing and Hearing Disorders: Research and Diagnostics, April 2002, Vol. 6, 15-17. doi:10.1044/hhd6.1.15
Treacher Collins syndrome (TCS) is an autosomal dominant genetic disorder characterized by dysmorphic features of the face, eyes, mandible, and ears. The gene can either be inherited or can occur from a spontaneous mutation. TCS occurs in 1 out of 50,000 live births with 40% of new occurrences resulting from positive family history. The remaining 60% occur from new mutation. Individuals can show varying degrees of TCS ranging from mild expressivity to severe expressivity, even within the same family (Jahrsdoerfer & Jacobson, 1995). The characteristics associated with TCS involve structures derived from the first and second branchial arch. Some of these characteristics include downward sloping eyes, mandibular hypoplasia, stenosis, or atresia of the ear canal, hearing impairment, preauricular tags, and cleft of the soft palate. The purpose of this paper is to describe the speech and hearing characteristics associated with TCS and to describe the audiologic management of an infant with TCS.
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