Single gene influences on radiologically-detectable malformations of the inner ear

Author(s): Harker, L. A.

Journal/Book: J Commun Disord. 1998; 31: 655 Avenue of the Americas, New York, NY 10010. Elsevier Science Inc. 391-410.

Abstract: Inner ear malformations associated with hearing loss or vestibular dysfunction are discussed from the viewpoint of the etiologies of the malformation. Symptoms of classification of inner ear malformations are discussed. The significance of malformations of the cochlea and vestibular aqueduct to auditory function are discussed. Genetics features and characteristics of Branchio-oto-renal, Waardenburg's, Pendred's, DiGeorge's, Wildervanck, Fountain, and Treacher Collins syndromes are discussed in relation to ear abnormalities and hearing. Similar attention is given to genetic studies of nonsyndromic hearing loss.

Note: Article Smith SD, Boys Town Natl Res Hosp, 555 N 30TH St, Omaha,NE 68131 USA

Keyword(s): SENSORINEURAL HEARING-LOSS; LARGE VESTIBULAR AQUEDUCT; TREACHER-COLLINS SYNDROME; SYNDROME TYPE-II; WAARDENBURG SYNDROME; PENDREDS SYNDROME; MANDIBULOFACIAL DYSOSTOSIS; BRANCHIOOTORENAL SYNDROME; COMPUTED-TOMOGRAPHY; MONDINI DYSPLASIA

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