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Preventitive management of children with congenital abnormalities and syndromes.
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    Preventitive management of children with congenital abnormalities and syndromes.GN Wilson and WC Cooley. (Paperback including CD-rom). UK: Cambridge University Press. ISBN 0 521 77673 2

    As more and more rare syndromes are described and the clinical features of the common syndromes are enlarged upon, there have been calls for studies on long term follow up, to assess complications and prognosis. For the rare syndromes this had been slow in coming. Patients diagnosed by geneticists are rarely followed up, or seen again by them. They are mostly sent back to the referring paediatrician. This, in part, has arisen because geneticists in the UK had to battle, in the 1960s and 70s to persuade paediatricians and physicians to refer their patients for diagnosis.

    There was, at that time, a small set of geneticists who had developed an expertise in dysmorphology and syndrome identification, but their colleagues were frightened that, if they used them, they would lose their patients; or they took the view that there was no need for a diagnosis if there was no treatment and so patients were not referred. Education, a few brilliant diagnoses and not a few medico-legal cases changed all of that, but part of the unspoken bargain that was entered into included the family's return, after diagnosis (or the attempt thereof) back to the referring physician.

    Geneticists, have learned what becomes of some patients with rare conditions by reading the literature. This information is important. Faced with a risk of recurrence, most sensible parents will want to know what has happened to other children with their child's condition, what else is in store for them, and who will keep an eye open for the complications.

    Drs Wilson and Cooley have written a unique book that fills a gap in the market. They have chosen some of the more common malformation anomalies or syndromes and written about preventative management. “Common” in their terms means those conditions with a frequency of more than 1 in 25 000 births, and by preventative management they mean knowing about and acting upon, complications. To achieve this, the authors have drawn up checklists of what needs to be assessed at every age. There are for instance three tables for cerebral palsy, one from 0–1 years, one for 1–6 years, and finally a checklist for those after 6 years. There are tables for tuberous sclerosis, neurofibromatosis, Noonan syndrome, Ehlers-Danlos, and some 130 other conditions. They list patient groups and summarise clinical and laboratory diagnoses and key management issues. They have not gone back to original references, but refer frequently to Gorlin's textbook “Syndromes of the Head and Neck” for a fuller understanding of some of the differential diagnoses mentioned in this book, but that is in order.

    This is an excellent book. One for the shelf of every genetics department and also for easy reach of those following the patient. It comes with a CD-ROM and I can see clinical geneticists, instead of writing long letters to the GP, listing what needs to be checked, and simply printing the table from the CD.

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