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Colour Atlas of Congenital Malformation Syndromes.
  1. JANE HURST, Consultant clinical geneticist

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    Colour Atlas of Congenital Malformation Syndromes. Edited by M Baraitser and R Winter. (Pp 233; £65 hardback.) Mosby-Wolfe, 1996. ISBN 0-7234-2073-4 .

    It is a difficult task to review a book written by two clinical geneticists who taught me any skills I have in the diagnosis of children with malformations. The enthusiasm of the authors to share their skills is recognised by the number of trainees who would like to work with them and by the many teaching aids they have published over the past 15 years. This enthusiasm has resulted in the current book which, although with a new publisher, is an updated revised edition ofA Colour Atlas of Clinical Genetics. I think that most readers of Archives will find the book an interesting, and more importantly, enjoyable romp through dysmorphic syndromes. Overall the book is to be recommended, though it is slightly spoilt by a few features which could easily be changed in another edition.

    The authors recommend the book for paediatricians and geneticists as a guide to the visible recognition of congenital malformations. In fact, the book deals with babies and children with malformations as part of a syndrome rather than addressing isolated malformations. An improvement on the previous edition is the expanded text and references by each condition which is described. Many of the photographs have been updated. There is an increase in the number of dysmorphic syndromes described at the expense of descriptions of the more common birth defects and single gene disorders. I’m not sure this is an unqualified success because it is now difficult to know whether the book is aimed towards paediatricians or geneticists. In fact it falls somewhere in the middle. For paediatricians there are too many rare syndromes which are not distinct enough for easy recognition. Unfortunately, compared with the earlier edition, a decision has been made to omit much of the general introductory text.

    I would recommend some sharper editing before the next edition. The grouping of syndromes, for example Rubinstein-Taybi, under syndromes diagnosed by visible abnormalities, is unhelpful. I also found it annoying that the title at the top of the page may not correspond to any of the illustrations on the page.

    Most paediatricians will use the book as a teaching or learning aid rather than a diagnostic aid and I’m sure that it will give invaluable help to those preparing for the MRCP. It is more up to date thanSmith’s Recognizable Patterns of Human Malformation and departments of paediatrics should strongly consider this book as an alternative.

    Finally the cover shows the full body xray of a neonate. I asked several consultant geneticists for a diagnosis. There was no consensus. Could the authors please give us the answer in the next edition ?

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