© 1984

Gamut Index of Skeletal Dysplasias

An Aid to Radiodiagnosis


Table of contents

  1. Front Matter
    Pages i-xv
  2. Kazimierz Kozlowski, Peter Beighton
    Pages 1-28
  3. Kazimierz Kozlowski, Peter Beighton
    Pages 29-77
  4. Kazimierz Kozlowski, Peter Beighton
    Pages 79-178
  5. Back Matter
    Pages 179-198

About this book


The skeleton is involved to a significant extent in more than 500 genetic and congenital syndromes and although the majority of these are individually rare, collectively they are not uncommon. Diagnostic precision, which is crucial for accurate prognostica­ tion and effective management, is frequently dependent upon recognition of radiological stigmata. For this reason the radiologist plays a key role in the appraisal and investigation of persons with disorders of this type. With these points in mind we have written this handbook for use in the radiographic reporting room. We have endeavored to provide the essential information which will facilitate radiodiagnosis and have striven for clarity and accuracy. We believe that our objective will be achieved by means of the 'gamut' format which we have employed. In Section 1 we have addressed the problem of diagnosis of generalized skeletal abnormalities, while Section 2 is based upon an anatomical or regional approach. Lists of conditions are given in order of prevalence or importance. Our gamut has been deliberately simplified and only the most important and easily recognized radiographic stigmata have been taken into account. Pertinent clinical, radiographic, and genetic information for each syndromic entity is provided in Section 3, where the disorders are placed in alphabetical order. This section also contains relevant references which are as up to date as possible.


Dysplasias Erbkrankheit Röntgen Röntgendiagnostik Skelettmissbildung bone cognition diagnosis diagnostics dysplasia fracture management osteoporosis spine syndromes

Authors and affiliations

  1. 1.Royal Alexandra Hospital for ChildrenCamperdown, SydneyAustralia
  2. 2.Research Unit for Inherited Skeletal DisordersUniversity of Cape Town Medical School and Groote Schuur HospitalObservatorySouth Africa

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