Hereditary Hearing Loss and Its Syndromes (Oxford Monographs on Medical Genetics Book 63)

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.
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. Cover 1 Contents 12 Contributors 14 1. GENETIC HEARING LOSS—A BRIEF HISTORY 18 2. EPIDEMIOLOGY, ETIOLOGY, GENETIC MECHANISMS, AND GENETIC COUNSELING 21 3. EMBRYOLOGY OF THE MAMMALIAN EAR 30 4. GENE/ENVIRONMENT INTERACTIONS IN ACQUIRED HEARING LOSS 75 5. SYNDROME DIAGNOSIS AND INVESTIGATION IN THE HEARING-IMPAIRED PATIENT 102 6. GENETIC DIAGNOSIS AND GENE DISCOVERY FOR HEARING LOSS USING MASSIVELY PARALLEL SEQUENCING 108 7. GENETIC HEARING LOSS WITH NO ASSOCIATED ABNORMALITIES 115 8. GENETIC HEARING LOSS ASSOCIATED WITH EXTERNAL EAR ABNORMALITIES 227 9. GENETIC HEARING LOSS ASSOCIATED WITH EYE DISORDERS 284 10. GENETIC HEARING LOSS ASSOCIATED WITH MUSCULOSKELETAL DISORDERS 339 11. GENETIC HEARING LOSS ASSOCIATED WITH RENAL DISORDERS 460 12. GENETIC HEARING LOSS ASSOCIATED WITH NEUROLOGICAL AND NEUROMUSCULAR DISORDERS 486 13. GENETIC HEARING LOSS ASSOCIATED WITH CARDIAC ABNORMALITIES 579 14. GENETIC HEARING LOSS ASSOCIATED WITH ENDOCRINE DISORDERS 588 15. GENETIC HEARING LOSS ASSOCIATED WITH METABOLIC DISORDERS 616 16. GENETIC HEARING LOSS ASSOCIATED WITH INTEGUMENTARY DISORDERS 646 17. GENETIC HEARING LOSS ASSOCIATED WITH ORAL AND DENTAL DISORDERS 710 18. GENETIC HEARING LOSS ASSOCIATED WITH CHROMOSOME DISORDERS 717 Index 736 A 736 B 737 C 737 D 739 E 740 F 741 G 741 H 741 I 743 J 743 K 743 L 743 M 744 N 745 O 745 P 746 Q 747 R 747 S 747 T 748 U 749 V 749 W 749 X 749 Y 749 Z 749 Genetic hearing loss : a brief history -- Epidemiology, etiology, genetic mechanisms, and genetic counseling -- Embryology of the mammalian ear -- Gene/environment interactions in acquired hearing loss -- Syndrome diagnosis and investigation in the hearing-impaired patient -- Genetic hearing loss with no associated abnormities -- Genetic hearing loss associated with external ear abnormalities -- Eye disorders -- Genetic hearing loss associated with musculoskeletal disorders -- Genetic hearing loss associated with renal disorders -- Genetic hearing loss associated with neurologic and neuromuscular disorders -- Genetics hearing loss associated with cardiac abnormalities -- Genetic hearing loss associated with endocrine disorders -- Genetic hearing loss associated with metabolic disorders -- Integumentary disorders -- Oral and dental disorderss -- Chromosome disorders This is the third edition of the foremost medical reference on genetic hearing loss, updated to include new information on molecular mechanisms. It is an excellent resource for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and for clinical training programs and researchers in hearing sciences.