Bone dysplasias : an atlas of genetic disorders of skeletal development

著者

書誌事項

Bone dysplasias : an atlas of genetic disorders of skeletal development

Jürgen W. Spranger, Paula W. Brill, Andrew K. Poznanski

Oxford University Press, c2002 , Urban & Fischer Verlag, c2002

2nd ed

  • : us
  • : gw

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注記

Includes bibliographical references and index

内容説明・目次

内容説明

Many advances have been made in understanding skeletal dysplasias since the first edition of this classic text appeared in 1974. The diagnostic process has been refined, many new disorders have been recognized, and the molecular aspects in many cases have been elucidated. The second edition has been completely updated, with the help of two new co-authors, to incorporate these advances. The book's format is similar to the original but the number of conditions covered has almost doubled and molecular information has been added wherever available. The number of figures has been increased to the limit of economic wisdom. As in the first edition, the illustrations have been selected and sequenced to illustrate both the degree of variability of a given disorder and its changes with age. This book is designed for physicians involved in the evaluation and treatment of patients with skeletal dysplasias, including radiologists, medical geneticists, paediatricians, and orthopaedic surgeons. Its main goal is to assist in the diagnosis of specific conditions and the care of affected individuals. Though mutations of specific genes can produce dysplasias with very different phenotypes and prognoses, the primarily clinical aim of this book dictated a phenotypic classification in general, with compromises on etiologic grounds where necessary. Since the attempt to diagnose a skeletal dysplasia from single signs, alone or in combination, is fraught with errors, the authors focus on basic patterns of skeletal abnormalities.

目次

  • 1. Lethal Osteochondrodysplasias
  • 2. Chondrodysplasia Punctata Group
  • 3. Skeletal Dysplasias with Predominant Metaphyseal Involvement
  • 4. Skeletal Dysplasias with Predominant Epiphyseal Involvement
  • 5. Skeletal Dysplasias with Major Involvement of the Spine
  • 6. Skeletal Dysplasias with Multiple Dislocations
  • 7. Dysostosis Multiplex: Complex Carbohydrate Storage Diseases
  • 8. Skeletal Dysplasias with Predominant Involvement of Single Sites or Segments
  • 9. Dysplasias with Prominent Diaphyseal Involvement
  • 10. Skeletal Dysplasias with Decreased Bone Density
  • 11. Skeletal Dysplasias with Increased Bone Density
  • 12. Skeletal Dysplasias due to Disorganized Development of Bone Constituents
  • 13. Osteolyses

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