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Overgrowth Syndromes
  1. J Clayton-Smith

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Paediatricians are often more concerned about failure to grow rather than excessive growth. Bigger is not always better, however, and this relatively slim volume provides a wealth of information about almost all of the recognised overgrowth syndromes. Edited by some of the world’s experts on growth disorders, the focus is on multiple anomaly syndromes which have generalised or partial overgrowth as a feature. Although many of the conditions are rare some, such as Fragile X syndrome and neurofibromatosis, are common enough for this book to be of relevance to the generalist as well as the specialist. Along with details of conditions such as Sotos syndrome and Beckwith-Wiedemann syndrome there is information on many newly delineated overgrowth syndromes, reflecting the increased interest in overgrowth and the mechanisms giving rise to it over the past few years.

The format of this book and layout of the information within the chapters is traditional. Each chapter provides comprehensive coverage of a specific syndrome, including the clinical aspects, differential diagnoses and aetiology where known. The topics are well referenced and accompanied by many good quality, if rather dated, black and white illustrations. There are in addition chapters on chromosomal overgrowth syndromes, endocrine causes of overgrowth, and non-syndromic overgrowth, although the latter is rather brief and disappointing. An introductory chapter has fascinating historical facts about overgrowth and the way it features in ancient mythology. Some tales are hard to swallow, such as the birth of the mythical giant Gargantua through his mother’s ear! A later discussion confirms that the “Elephant Man”, Joseph Merrick had the condition of Proteus syndrome and not, as was originally thought, neurofibromatosis.

I found this book to be a very interesting read, and a superb source of references. The tables of clinical features in each chapter are also useful check lists when considering syndromic diagnoses. The molecular genetic information is reasonably up to date although it is unfortunate for the editors that one of the great mysteries of overgrowth, the cause of Sotos syndrome, was discovered just after this book was published. I am not so sure that this book would be the first choice of general paediatricians if their budget were limited, as even though the authors have provided clear explanations of many of the genetic mechanisms involved, some readers would find the more complicated genetic explanations containing a lot of molecular genetic jargon hard going. The book would also be of more relevance to those caring for children with overgrowth disorders on a day to day basis if there was more information on the general management of overgrowth syndromes. Although the issue of increased risk of neoplasia in overgrowth syndromes is raised, for example, there is no general guidance on screening affected children for tumours in childhood.

Despite these criticisms, I am sure that all paediatricians would enjoy delving into this book as they could not fail to find something of interest within its pages. From the point of view of the clinical geneticist or growth specialist the book provides a good overall review of overgrowth syndromes and will be a useful resource.

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