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G Canepa, P Maroteaux, V Pietrogrande. Padova: Piccin Nuova Libraria, 2001.
This is a two volume book describing the clinical and radiological features of 400 bone dysplasias, dysostoses, dysmorphic syndromes, and selected non-mendelian disorders. Unlike previous similar works, it is written by two orthopaedic surgeons and a clinical geneticist, and comes with a CD-ROM that has a specially written program, which can be used as a gamut index of clinical and radiological signs and for making diagnoses based on these features.
Volume 1 contains a classification of bone dysplasias and dysmorphic syndromes involving the skeleton. The classification of osteodysplasias is mainly clinical and, although different from the 1997 International Nomenclature of Constitutional Disorders of Bone, is still quite useful diagnostically. The conditions are discussed in alphabetical order and volume 1 contains diseases from A to M. The format used to describe each syndrome and dysplasia includes major diagnostic criteria, aetiology-pathogenesis, …