Hereditary Hearing Loss and Its Syndromes

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.CONTRIBUTORS ; 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