Gamut Index of Skeletal Dysplasias : An Aid to Radiodiagnosis

The publication of a third edition after only five years confirms the widespread popularity of this book. Apart from the numerous additions and modifications consequent on the substantial expansion of knowledge in this field, the authors have further improved the value of this text with the excellent chapter, as men­ tioned in their preface, on general aspects of the problem. The advances referred to in this chapter, particularly molecular genetics and database access, have transformed the diagnosis of skeletal dysplasias. However, this basic text remains an essential starting point for anyone confronted with an unfamiliar condition. Among the references listed on page xix, Dr Kozlowski's paper 'The radiographic clues in the diagnosis of bone dysplasias', Pediatric Radiology 1985; 15: 1-3, is still essential reading. John Masel Preface to the First Edition 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 prognostication 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. This title presents the radiological manifestations of the genetic skeletal dysplasias in the form of Gamut Lists. Its purpose is to act as an aid to differential diagnosis following the observation of abnormalities in bone radiographs. The first section of the book comprises gamut lists of generalised skeletal abnormalities. The second section takes a regional approach and in the third section, brief outlines and key references are provided for the heritable skeletal disorders listed in Sections 1 and 2. At appropriate places in the text pertinent comment is made concerning practical issues in radio-diagnosis of these conditions. An extensive index is provided. This new edition of the book has been extensively updated and expanded and provides the user with an accurate and effective diagnostic tool Front Matter....Pages i-xxiii Generalised Skeletal Abnormalities....Pages 1-24 Regional Skeletal Abnormalities....Pages 25-79 Skeletal Dysplasia Syndromes....Pages 81-231 Back Matter....Pages 233-256