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Deafness

  • Richard J. H. Smith
  • Guy Van Camp
Chapter
  • 1.7k Downloads

Abstract

Recent advances in the molecular biology of hearing and deafness are being transferred from the research laboratory to the clinical arena. This transfer of knowledge is enhancing patient care by facilitating the diagnosis of hereditary deafness. Traditionally, hereditary deafness has been distinguished from nongenetic causes of deafness by otologic, audiologic, and physical examinations, complemented by a family history and ancillary tests such as temporal bone computed tomography, urinalysis, thyroid function studies, ophthalmoscopy, and electrocardiography. Even using this test battery, an unequivocal distinction between genetic and nongenetic causes of deafness often is difficult. If comorbid conditions are identified, the deafness may fall into one of more than 400 recognized types of syndromic hearing loss, but if hearing loss segregates as the only abnormality, diagnosing the deafness as nonsyndromic and inherited is challenging.1

Keywords

Hearing Loss Mutation Screening Denature High Performance Liquid Chromatography Nonsyndromic Hearing Loss Wolfram Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Richard J. H. Smith
    • 1
    • 2
    • 3
  • Guy Van Camp
    • 4
  1. 1.Department of OtolaryngologyUniversity of IowaIowa CityUSA
  2. 2.Molecular Otolaryngology Research LaboratoriesUniversity of IowaIowa CityUSA
  3. 3.Department of Internal Medicine, Division of NephrologyUniversity of IowaIowa CityUSA
  4. 4.Department of Medical GeneticsUniversity of AntwerpAntwerpBelgium

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