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Dysmorphic Syndromes and Constitutional Diseases of the Skeleton
  1. Mohnish Suri

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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, incidence, risk of recurrence, sex ratio, age at detectability, main clinical features, radiological findings, prognosis, diagnosis (including differential diagnosis, prenatal diagnosis, and diagnosis of carriers), and therapy. Most of the conditions have been well presented. There are excellent photographs, radiographs at different ages, and line diagrams of the salient facial, clinical, and/or radiological features for almost all the conditions discussed in the book.

    Volume 2 contains diseases from N to Z. This volume also includes an atlas of the histopathological features of common skeletal dysplasias by Victor and Ritta Stanescu. The authors of this section have put together an excellent collection of pathological sections (including electron micrographs) of the growth cartilage in 49 different skeletal dysplasias and syndromes. This is a very useful feature of the book but it would benefit from the inclusion of sections of normal growth cartilage for comparison. This volume of the book also includes a gamut index of clinical and radiological features, a glossary of terms used in the book for those not familiar with dysmorphology and genetic terminology, and an index.

    The most useful feature of the book is the CD-ROM that accompanies it. This contains a multimedia computer program called “Philos” that can be used to search for conditions with any combination of clinical or radiological features from the 400 conditions discussed in the book. It can also be used to find the clinical and radiological features of any of the syndromes and dysplasias discussed in the book. The software is easy to install and use and it can be used to print the list of differential diagnoses obtained by different searches. It is also an excellent teaching and learning tool.

    Although the book is well written and well illustrated, there are numerous typographical and grammatical errors in the text. From a clinical geneticist's viewpoint, the book is disappointing, as the genetics of the conditions is not discussed in any detail. The inheritance pattern(s) for each condition is described and the gene loci for most conditions mentioned, where known. However, the book fails to discuss the dramatic advances that have been made in recent years in understanding the molecular genetics of several dysmorphic syndromes and skeletal dysplasias. The book contains no information about the genes that have been identified for several of the syndromes and skeletal dysplasias. In addition, several well recognised conditions, such as Langer mesomelic dysplasia, Nievergelt syndrome, osteopathia striata with cranial sclerosis, sponastrime dysplasia, and Stüve-Wiedemann syndrome have not been discussed. Many distinct lethal skeletal dysplasias such as Astley-Kendall syndrome, Blomstrand dysplasia, Greenberg dysplasia, Pacman syndrome, and Raine syndrome have also not been described. Some of the terminology used in the text is obscure and some conditions are discussed under unfamiliar names (for example, nail-patella syndrome is discussed under the title of arthro-osteo-onychodysplasia). There are very few recent references, and there are several references from Italian publications. It would also have been helpful to have an index in both volumes of the book for ease of reference.

    Despite these shortcomings, this book is an extremely useful addition to the field of clinical dysmorphology and skeletal dysplasia. It will find a place as a reference book in clinical genetic, orthopaedic, perinatal pathology, and radiology departments and in the personal libraries of clinical geneticists, orthopaedic surgeons, and radiologists involved in the diagnosis and management of dysmorphic syndromes and skeletal dysplasias.

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