Hereditary hearing loss and its syndromes
著者
書誌事項
Hereditary hearing loss and its syndromes
(Oxford monographs on medical genetics, no. 50)
Oxford University Press, 2004
2nd ed
大学図書館所蔵 全6件
  青森
  岩手
  宮城
  秋田
  山形
  福島
  茨城
  栃木
  群馬
  埼玉
  千葉
  東京
  神奈川
  新潟
  富山
  石川
  福井
  山梨
  長野
  岐阜
  静岡
  愛知
  三重
  滋賀
  京都
  大阪
  兵庫
  奈良
  和歌山
  鳥取
  島根
  岡山
  広島
  山口
  徳島
  香川
  愛媛
  高知
  福岡
  佐賀
  長崎
  熊本
  大分
  宮崎
  鹿児島
  沖縄
  韓国
  中国
  タイ
  イギリス
  ドイツ
  スイス
  フランス
  ベルギー
  オランダ
  スウェーデン
  ノルウェー
  アメリカ
注記
Rev. ed. of: Hereditary hearing loss and its syndromes / Robert J. Gorlin, Helga V. Toriello, M. Michael Cohen Jr. 1995
Includes bibliographical references and index
内容説明・目次
内容説明
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.
目次
- 1. Genetic Hearing Loss: A Brief History
- 2. Syndrome Diagnosis and Investigation in the Hearing Impaired Patient
- 3. Epidemiology, Etiology, Genetic Patterns and Genetic Counseling
- 4. Embryology of the Ear
- 5. Genetic Hearing Loss with No Associated Abnormalities
- 6. Genetic Hearing Loss Associated with External Ear Abnormalities
- 7. Genetic Hearing Loss Associated with Eye Disorders
- 8. Genetic Hearing Loss Associated with Musculoskeletal Disorders
- 9. Genetic Hearing Loss Associated with Renal Disorders
- 10. Genetic Hearing Loss Associated with Neurologic and Neuromuscular Disorders
- 11. Genetic Hearing Loss Associated with Cardiac Defects
- 12. Genetic Hearing Loss Associated with Endocrine Disorders
- 13. Genetic Hearing Loss Associated with Metabolic Disorders
- 14. Genetic Hearing Loss Associated with Integumentary Disorders
- 15. Genetic Hearing Loss Associated with Oral and Dental Disorders
- 16. Genetic Hearing Loss Associated with Chromosome Disorders
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