Hereditary Hearing Loss and Its Syndromes

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This definitive reference work replaces Konigsmark and Gorlin's Genetic and Metabolic Deafness (1976). Whereas the earlier volume covered 151 genetic conditions related to hearing loss, this work covers 435. As before, the authors first discuss isolated hereditary hearing loss and then present hearing loss syndromes such as those involving the nervous system, eye, external ear and musculoskeletal system. The discussions are authoritative, practical and well-illustrated, and those of the most important syndromes ...
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Overview


This definitive reference work replaces Konigsmark and Gorlin's Genetic and Metabolic Deafness (1976). Whereas the earlier volume covered 151 genetic conditions related to hearing loss, this work covers 435. As before, the authors first discuss isolated hereditary hearing loss and then present hearing loss syndromes such as those involving the nervous system, eye, external ear and musculoskeletal system. The discussions are authoritative, practical and well-illustrated, and those of the most important syndromes are very detailed. Introductory chapters deal with the history of the field, clinical approach, embryology of the ear, tooth anomalies and hearing loss, and related endocrine and metabolic disorders. Throughout, the authors pay careful attention to nomenclature and classification. This will be an invaluable resource for all professionals concerned with genetic hearing loss, including medical geneticists, audiologists and otolaryngologists.

The book contains black-and-white illustrations.

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Editorial Reviews

Doody's Review Service
Reviewer: Teresa A. Hadro, MS (Children's Memorial Hospital)
Description: This is the long-awaited sequel to Genetic and Metabolic Deafness, published in 1976. The nearly 20-year wait was worth it! The number of conditions described has grown from 151 in the original text to 427 in the current volume. Useful chapters on syndrome delineation and embryology of the ear have been added, and the chapter on epidemiology has been updated.
Purpose: The editors of this book, volume 28 in the "Oxford Monographs on Medical Genetics" series, present their work to assist in the diagnosis of syndromal hearing loss and the understanding of its etiology. Syndromes that feature hearing loss and associated anomalies are presented according to organ systems.
Audience: A tremendous compilation of information is easily accessible in this one volume to clinicians of all specialties as well as to students of genetics.
Features: The number and quality of illustrations, most of them photographs of patients with syndromic hearing loss, the comprehensiveness of the information compiled, and the understandable organization of the contents qualify this book as a quintessential tool for the practitioner of clinical genetics. The references are abundant, relevant, and current. One minor flaw is that there is no syndrome index provided.
Assessment: Clinical geneticists will want to own this book. Medical libraries will more ably serve students of genetics by providing this book on their reference shelves.
Teresa A. Hadro
This is the long-awaited sequel to Genetic and Metabolic Deafness, published in 1976. The nearly 20-year wait was worth it! The number of conditions described has grown from 151 in the original text to 427 in the current volume. Useful chapters on syndrome delineation and embryology of the ear have been added, and the chapter on epidemiology has been updated. "The editors of this book, volume 28 in the Oxford Monographs on Medical Genetics series, present their work to assist in the diagnosis of syndromal hearing loss and the understanding of its etiology. Syndromes that feature hearing loss and associated anomalies are presented according to organ systems. "A tremendous compilation of information is easily accessible in this one volume to clinicians of all specialties as well as to students of genetics. "The number and quality of illustrations, most of them photographs of patients with syndromic hearing loss, the comprehensiveness of the information compiled, and the understandable organization of the contents qualify this book as a quintessential tool for the practitioner of clinical genetics. The references are abundant, relevant, and current. One minor flaw is that there is no syndrome index provided. "Clinical geneticists will want to own this book. Medical libraries will more ably serve students of genetics by providing this book on their reference shelves.

4 Stars! from Doody
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Product Details

  • ISBN-13: 9780195065527
  • Publisher: Oxford University Press, USA
  • Publication date: 1/28/1995
  • Series: Oxford Monographs on Medical Genetics Series , #28
  • Edition description: New Edition
  • Edition number: 1
  • Pages: 488
  • Product dimensions: 11.31 (w) x 8.81 (h) x 1.24 (d)

Meet the Author

Robert J. Gorlin, D.D.S., M.S., D.Sc., is Regent's Professor of Oral Pathology and Genetics in the School of Dentistry, and Professor of Pathology, Pediatrics, Obstetrics and Gynecology, Otolaryngology and Dermatology in the School of Medicine, at the University of Minnesota. Helga V. Toriello, Ph.D., is the Director of Genetics Services at Butterworth Hospital, and Associate Professor in the Department of Pediatrics and Human Development at Michigan State University. M. Michael Cohen, Jr., D.M.D., Ph.D., is Professor of Oral Pathology, Pediatrics, Community Health and Epidemiology, Health Sciences Administration, Sociology and Social Anthropology at Dalhousie University.

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Table of Contents

Contributors
1 Genetic Hearing Loss - A Brief History 3
2 Syndrome Delineation and Heterogeneity 5
3 Epidemiology, Etiology, and Genetic Patterns 9
4 Embryology of the Ear 22
5 Genetic Hearing Loss with No Associated Abnormalities 43
6 Genetic Hearing Loss Associated with External Ear Abnormalities 62
7 Genetic Hearing Loss Associated with Eye Disorders 105
8 Genetic Hearing Loss Associated with Musculoskeletal Disorders 141
9 Genetic Hearing Loss Associated with Renal Disorders 234
10 Genetic Hearing Loss Associated with Nervous System Disorders 257
11 Genetic Hearing Loss Associated with Endocrine and Metabolic Disorders 318
12 Genetic Hearing Loss Associated with Chromosomal Disorders 355
13 Genetic Hearing Loss Associated with Integumentary Disorders 368
14 Genetic Hearing Loss Associated with Oral and Dental Disorders 413
15 Genetic Hearing Loss Associated with Miscellaneous Disorders 418
Index 435
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