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Edited by C J Epstein, R P Erickson, A Wynshaw-Boris. Oxford: Oxford University Press, 2003, £150, pp 1082. ISBN 0-19-514502-X (hardback).
The third edition of David Smith’s outstanding textbook, Recognizable patterns of human malformation, was published in 1982. It consisted of 652 pages with detailed descriptions of over 250 malformation syndromes. It was, and remains, an excellent book. Yet it did not contain a single mention of molecular pathogenesis or an underlying mutational spectrum.
How times have changed. Now, thanks to extraordinary developments in molecular biology, it is the exception rather than the rule to encounter a syndrome for which there is not an available molecular handle. The diverse fields of molecular genetics and clinical dysmorphology have pooled their intellectual responses to burrow away at the mysteries of human development. Their triumphant emergence is elegantly encapsulated in this wonderful book.
The title is clearly derived from Garrod’s original concept of “inborn errors of metabolism” and it is probably not too fanciful to surmise that the next edition will come with a pullout wall chart linking all the known molecular developmental cascades in the sort of multidirectional interrelated nightmarish diagram that is much beloved of biochemists. For the moment readers will have to suffice with accounts of individual pathways and gene families. Not that they should feel deprived, for this is a very impressive review of the state of the art.
The editors have divided the 108 chapters into four main sections covering patterns of development, defined developmental pathways, gene families not yet in pathways, and regulatory processes. Each chapter is roughly equally divided between molecular biology and “syndromology”, with valiant attempts to make plausible links between cause and effect. Inevitably some chapters score more highly than others but I would be hard pressed to find fault with any of the many chapters consulted during a busy six weeks of clinical practice. However it was a little surprising to find that some topical conditions such as Seckel’s, Sotos’s and Van der Woude’s syndromes have not been included, and a few more illustrations would not go amiss. One particular chapter, which should perhaps remain anonymous, contains two solid pages of amino acid sequences without a single diagram or illustration to enlighten the reader.
Overall it is difficult to see how this book can be faulted, representing as it does the collective wisdom of three erudite editors, 188 distinguished authors, and a generation of outstanding scientists and clinicians. Together with the latest edition of Gorlin’s Syndromes of the head and neck, this provides the definitive guide to molecular and clinical dysmorphology. It’s not cheap but no genetics library worthy of the name can afford to be without it.