書誌事項

Syndromes of the head and neck

[edited by] Robert J. Gorlin, M. Michael Cohen, Jr., L. Stefan Levin

(Oxford monographs on medical genetics, no. 19)

Oxford University Press, 1990

3rd ed

大学図書館所蔵 件 / 43

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注記

Includes bibliographies and index

内容説明・目次

内容説明

This classic encyclopaedic work has been thoroughly updated and expanded for this long awaited new edition. It describes the range of features, epidemiology, mode of inheritance, and pathogenesis of nearly 700 genetic syndromes. Uniquely comprehensive, it depicts the clinical features of all genetic disorders which are known to affect the head and neck. It contains over 2300 illustrations. The authors make a clear distinction between doubtful and authentic cases, and bibliographies accompany each syndrome to encourage further research. It is reorganized, completely rewritten, and greatly expanded version for this edition.

目次

  • Deformations and disruptions
  • Teratogenic agents
  • Chromosomal syndromes I: common and/or well known syndromes
  • Chromosomal syndromes II: unusual variants
  • METABOLIC DISORDERS
  • the mucopolysaccharidoses
  • the oligosaccharidoses and related disorders
  • metabolic disorders and dysmorphic features
  • Syndromes affecting bone I: the osteogenesis imperfectas
  • Syndromes affecting bone II: chondrodysplasias and chondrodystrophies
  • Syndromes affecting bone III: craniotubular bone disorders
  • Syndromes affecting bone IV: other skeletal disorders
  • Proportionate short stature syndromes
  • Overgrowth syndromes and postnatal onset obesity syndromes
  • Hamartoneoplastic syndromes
  • Syndromes affecting the skin and mucosa
  • Syndromes with craniosynostosis I: general aspects and well known syndromes
  • Syndromes with craniosynostosis II: miscellaneous syndromes
  • Syndromes of abnormal craniofacial contour
  • Syndromes affecting the central nervous system
  • Syndromes with contractures
  • BRANCHIAL ARCH AND ORO-ACRAL DISORDERS
  • branchial arch syndromes
  • oromandibular-limb hypogenesis syndromes
  • oro-facial-digital syndromes
  • otopalatal digital syndromes
  • Orofacial clefting syndromes I: general aspects
  • Orofacial clefting syndromes II: common and/or well known syndromes
  • Orofacial clefting syndromes III: other syndromes
  • Orofacial clefting syndromes IV: associations
  • Syndromes with unusual facies I: well known syndromes
  • Syndromes with hypertelorism
  • Syndromes with unusual nasal anomalies
  • Syndromes with unusual ocular anomalies
  • Syndromes with facial fat atrophy
  • Syndromes with unusual facies II: other syndromes
  • Syndromes with gingival-periodontal components
  • Syndromes with unusual dental findings
  • Miscellaneous syndromes I: well known syndromes
  • Miscellaneous syndromes II: other syndromes
  • Appendix.

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