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Logo of archdischArchives of Disease in ChildhoodVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
Arch Dis Child. 2007 June; 92(6): 562.
PMCID: PMC2066177

Smith's recognizable patterns of human malformation, 6th edition

Reviewed by Richard A Stein

Edited by Kenneth Lyons Jones. Published by Elsevier Saunders, 2006, £63.99 (hardback), pp 954. ISBN 0-7216-0615-6

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Smith's recognizable patterns of human malformations has been situated, for a long time, at the forefront of general paediatrics and clinical genetics textbooks. The most recent, 6th edition of this impressive text reinforces and continues this tradition, and renders the volume one of the leading resources in the field, making it a superb reference for those whose work gravitates around clinical genetics.

Similar to previous editions, the book covers human malformations and provides valuable details about the aetiology, pathogenesis, natural history, clinical picture and molecular and cellular mechanisms of the various disorders.

Among the aspects that are new to the current edition, it is essential to remark on the plethora of colour photographs and images, which make the volume an ideal instrument for students and medical professionals alike. Several new syndromes are covered in this edition, among them the Kaufman‐McKusick syndrome, deletion 1p36 (a recently recognised gene deletion syndrome that was more extensively described in the 1990s), deletion 22q13 syndrome (a microdeletion syndrome first reported in 1985 and which represents a very rare disorder, with few patients identified to date), and the Meier‐Gorlin, Smith‐Maginess, Shprintzen‐Golberg, Mowat‐Wilson and Wiedeman‐Rautenstrauch syndromes. Another salient feature of the current edition is the wealth of updates about particularities of the cellular and molecular mechanisms implicated in specific syndromes.

Chapters focusing on morphogenesis and dysmorphogenesis, genetic counselling and minor abnormalities follow the initial sections that gravitate around specific syndromes. One chapter provides growth charts that illustrate the normal standards of height and weight. Two appendices conclude the volume. The first one groups each anomaly based on organs/systems and lists syndromes in which the specific defect is a major component of the clinical picture or is just occasionally present. The second appendix provides a nomenclature of genetic syndromes.

Major advances have taken place since the previous edition of the text was published, some of the most significant being the publication of the first drafts of the human genome and the tremendous expansion of the ‐omics disciplines. In the context of the rapid expansion of scientific information, it becomes increasingly difficult to stay on top of major research development. The current edition of Smith's recognizable patterns of human malformations is magnificent in this respect as well, in that it provides the most up‐to‐date information for its readership. The book will represent an outstanding resource for clinical geneticists, researchers, paediatricians, genetic counsellors, students and professionals alike.

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