Hereditary hearing loss and its syndromes
著者
書誌事項
Hereditary hearing loss and its syndromes
（Oxford monographs on medical genetics, no. 28）
Oxford University Press, 1995
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注記
Includes bibliographical references and index
内容説明・目次
内容説明
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.
目次
- 1: Robert J. Gorlin: Genetic hearing loss - a brief history. 2: M. Michael Cohen, Jr.: Syndrome delineation and heteroegeneity. 3: M. Michael Cohen, Jr.
- Robert J. Gorlin: Hearing loss - epidemiology, etiology, and genetic patterns. 4: Kathleen K. Sulik: Embryology of the ear. 5: Robert J. Gorlin: Genetic hearing loss with no associated abnormalities. 6: Judith Allanson: Genetic hearing loss associated with external ear abnormalities. 7: Robert J. Gorlin: Genetic hearing loss associated with eye disorders. 8: M. Michael Cohen, Jr.: Genetic hearing loss associated with musculo-skeletal disorders. 9: Robert J. Gorlin, Derin C. Webster, John C. Carey: Genetic hearing loss associated with renal disorders. 10: William B. Dobyns: Genetic hearing loss associated with nervous system disorders. 11: Robert J. Gorlin: Genetic hearing loss associated with endocrine and metabolic disorders. 12: Alberty Schinzel: Genetic hearing loss associated with chromosomal disorders. 13: Helga C. Toriello: Genetic hearing loss associated with integumentary disorders. 14: Robert J. Gorlin: Genetic hearing loss associated with oral and dental disorders. 15: Robert J. Gorlin: Genetic hearing loss associated with miscellaneous disorders
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