Hereditary Hearing Loss and Its Syndromes (3rd edition)

ISBN : 9780199731961

Helga V. Toriello; Shelley D. Smith
756 ページ
219 x 287 mm
Oxford Monographs on Medical Genetics

This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular diagnosis and on genetic susceptibility to ototoxic factors have been added. As in previous editions, the syndromes are grouped by system (visual, metabolic, cardiologic, neurologic, musculoskeletal, endocrine, etc.), with each chapter written by a recognized expert in the field. Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and for researchers in the hearing sciences.


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 Diagnosis and Gene Discovery for Hearing Loss Using Massively Parallel Sequencing
7. Genetic Hearing Loss with No Associated Abnormities
8. Genetic Hearing Loss Associated with External Ear Abnormalities
9. Genetic Hearing Loss Associaed with Eye Disorders
10. Genetic Hearing Loss Associated with Musculoskeletal Disorders
11. Genetic Hearing Loss Associated with Renal Disorders
12. Genetic Hearing Loss Associated with Neurologic and Neuromuscular Disorders
13. Genetics Hearing Loss Associated with Cardiac Abnormalities
14. Genetic Hearing Loss Associated with Endocrine Disorders
15. Genetic Hearing Loss Associated with Metabolic Disorders
16. Genetic Hearing Loss Associated with Integumentary Disorders
17. Genetic Hearing Loss Associated with Oral and Dental Disorders
18. Genetic Hearing Loss Associated with Chromosome Disorders


Helga 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 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.