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Hereditary Hearing Loss and Its Syndromes / Edition 3

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Genetic deafness affects 1 in 1000 children, and over the last decade several dozen of the responsible genes have been identified. This unique textbook aims to assist clinicians dealing with deaf patients and families by critically reviewing all relevant published material on genetics, pathology, clinical presentation, diagnosis, and laboratory findings. Thoroughly revised, the Second Edition has been updated throughout and includes a new chapter on hearing loss with cardiovascular disorders. It continues with the successful formula of presenting separate chapters on deafness associated with findings in specific body systems. Careful attention to cross referencing between chapters means that the multifaceted clinical presentations of distinct conditions are highlighted. These clinical variations are complemented by excellent clinical photographs, audiograms, figures from essential laboratory or other investigations, and comprehensive reference lists. Gene mutations that cause deafness are highlighted throughout the text, both in chapters dealing with syndromes and in a vastly expanded chapter focusing specifically on nonsyndromic forms of deafness. Thus, the new edition reflects all the progress on the molecular understanding of deafness made in recent years and integrates these findings into clinical practice. It also makes an important contribution to the cataloguing of new syndromes that have emerged in recent years, such as HIDS and X-linked maxillofacial dysostosis.
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Editorial Reviews

From the Publisher

From reviews of the first edition:

"The target audience of this high quality book is very large. Both novice and experienced clinicians, medical geneticists, researchers and teachers will find an impressive wealth of information."--Trends in Genetics

"Although several books on genetic hearing impairment are available, this 2nd edition gives the most comprehensive and updated information and should -within the field- be considered 'the book'!!" --Audiological Medicine

"Hearing loss is perhaps the most prevalent of all the chronic diseases with over 20 million Americans suffering from hearing impairment severe enough to affect their ability to communicate...The publication of this book is cause for celebration...This book stands alone as a standard reference on hereditary hearing loss. It will be an essential tool for all otorhinolaryngologists, medical geneticists, and other health care workers serving those with hearing disorders and their families."--The New England Journal of Medicine

"This book is an invaluable source of information for otolaryngologists, clinical geneticists and all those who care for patients with deafness and congenital malformations. Like other volumes by the same authors, it is destined to become a 'classic'."--Annals of the Royal College of Physicians and Surgeons of Canada

"This reference is the most comprehensive book on the subject of hereditary deafness since Konigsmark and Gorlin's text, Genetic and Metabolic Deafness, published in 1976. This sequel has been long awaited by professionals and students in the fields of genetics, otolaryngology, and speech and hearing...An excellent reference which will prove to be an invaluable resource."--Journal of Genetic Counseling

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Product Details

  • ISBN-13: 9780199731961
  • Publisher: Oxford University Press, USA
  • Publication date: 7/19/2013
  • Series: Oxford Monographs on Medical Genetics Series
  • Edition description: New Edition
  • Edition number: 3
  • Pages: 756
  • Product dimensions: 8.60 (w) x 11.10 (h) x 1.60 (d)

Meet the Author

Helga V. Toriello received her PhD in genetics from Michigan State University. She is the Clinical Genetics Director of Spectrum Health and a Professor in the Department of Pediatrics and Human Development at Michigan State University.

Shelley D. Smith obtained her Ph.D. in Medical Genetics at Indiana University and is certified as a Ph.D. Medical Geneticist by the American Board of Medical Genetics. She is currently Professor and Chair of Developmental Neuroscience and Professor of Pediatrics at the University of Nebraska Medical Center. She has been active clinically and in research in the field of hereditary hearing loss for over 20 years.

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Table of Contents


1. Genetic Hearing Loss: A Brief History

2. Epidemiology, Etiology, Genetic Mechanisms, and Genetic Counseling

3. Embryology of the Mammalian Ear

4. Gene/Environment Interactions in Acquired Hearing Loss

5. Syndrome Diagnosis and Investigation in the Hearing-impaired Patient

6. Genetic Hearing Loss with No Associated Abnormities

7. Genetic Hearing Loss Associated with External Ear Abnormalities

8. Eye Disorders

9. Genetic Hearing Loss Associated with Musculoskeletal Disorders

10. Genetic Hearing Loss Associated with Renal Disorders

11. Genetic Hearing Loss Associated with Neurologic and Neuromuscular Disorders

12. Genetics Hearing Loss Associated with Cardiac Abnormalities

13. Genetic Hearing Loss Associated with Endocrine Disorders

14. Genetic Hearing Loss Associated with Metabolic Disorders

15. Integumentary Disorders

16. Oral and Dental Disorders

17. Chromosome Disorders

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