British Journal of Radiology (2003) 76, 507
© 2003 British Institute of Radiology
doi:
Dysmorphic syndromes and constitutional diseases of the skeleton (Vols 1 & 2). By G Canepa, P Maroteaux and V Pietrogrande, pp. 2180 (plus CD-ROM), 2001 (Piccin Nuova Libraria S.p.A, Padova, Italy), $365.00 ISBN 88-299-1502-5
E Sweeney
This extensive book comes in two volumes and is accompanied by a CD-ROM. 400 bone dysplasias and syndromes are covered, including well known syndromes as well as rarer conditions that are characterized by distinctive clinical and/or radiographical appearances. Along with photographic illustrations there are numerous diagrams that emphasize clinical and radiographic features of the conditions covered. Each entry is followed by a list of relevant references. Each condition has information on synonyms, diagnostic criteria, aetiology, incidence, recurrence risks, sex ratio, clinical features, prognosis, radiological findings and therapy. Where relevant, McKusick numbers are included, facilitating easy cross referencing. The introduction provides a helpful classification of various bone dysplasias and syndromes. A useful addition to the text is a chapter on the histopathological features of 50 bone dysplasias and syndromes and this is illustrated by a collection of photographs of relevant histological features.
The accompanying CD-ROM "Philos" is easy to install and there are both French and English versions. Navigation through the CD-ROM is very straightforward and its "Consultation by Signs" function is a useful aid to diagnosis, as is the search facility "Diagnosis". Where a diagnosis is known, the program gives a helpful list of features of the condition and their relative frequencies. Unfortunately, despite installing the English version, some of the window prompts appeared in Italian.
This book brings together details of both dysmorphic and radiological features of many conditions. However, the text would have been enhanced by further details on molecular genetic investigations, which are now available for some conditions and may aid diagnosis in some difficult cases. Unfortunately, some of the details on the genetics and inheritance patterns were inaccurate or out of date and some of the photographs and radiographs could be of better quality, but the diagrams illustrate the main features of the condition in a clear and memorable way. Overall, this is an admirable synopsis of a vast area, but should be used alongside other texts or databases for the most accurate information.
