From The New England Journal of Medicine
This book is a trove of valuable clinical information on 30 of the most common genetic syndromes. The editors state that the book is intended as a resource for primary care physicians, medical specialists, and other physicians, most of whom are not geneticists. Although few nongeneticists are likely to have enough patients with these conditions to justify purchasing the book, it should certainly be on the shelf of every clinical geneticist and in the library of every pediatric tertiary care facility. Copies of individual chapters will probably find their way into many consultation letters.
The book has been edited by two widely respected clinical geneticists and written by clinicians who have extensive experience with each of the conditions. It is a treat to read what Robert Shprintzen has learned over the years from his patients with Shprintzen's syndrome and what Ann Smith has learned from her patients with the Smith-Magenis syndrome. Where else could one find recommendations about how to treat social phobia in a boy with the fragile X syndrome or how to help a teenager with Turner's syndrome achieve ``vehicular independence'' (the ability to drive a car safely)? Similarly, where else could one read that coming to a clinic with a book of word-search puzzles suggests a diagnosis of the Prader-Willi syndrome or that people with the Smith-Magenis syndrome often have a unique propensity for one-liners?
Each chapter deals with a different condition, and all the chapters generally follow the same format. Introductory sections on incidence, diagnostic criteria, etiology and pathogenesis, diagnostic testing, and differential diagnosis are followed by detailed descriptions of the nature, evaluation, and treatment of major disease manifestations. The emphasis is on clinical evaluation and management, but few of the recommendations derive from randomized, controlled trials or rigorous epidemiologic studies. Rather, what is usually presented is the extensive anecdotal experience of the authors. This permits users of the book to ``consult'' instantly with experts who have seen large numbers of patients with each of these conditions.
The features discussed vary depending on the condition, but sections on growth and feeding and on development and behavior are usually included. The delineation of the behavioral phenotypes for many of the conditions is especially useful. Each chapter concludes with contact information for disease-specific lay groups and a list of selected references. Despite the book's 2001 copyright date, references more recent than 1999 are very infrequent.
Although almost every chapter has a different author, the quality of the information provided is consistently good, and the chapters on achondroplasia, the fragile X syndrome, Klinefelter's syndrome, Noonan's syndrome, the Prader-Willi syndrome, the Smith-Magenis syndrome, and Turner's syndrome are outstanding. A few chapters seem incomplete, and generally there is too little said about how these disorders affect adults. This is partly because the natural history of even these relatively common genetic syndromes is not fully characterized and partly because most of the authors are pediatricians. Most of the authors are also geneticists, so it is surprising that little attention is paid to the importance of genetic counseling, prenatal diagnosis, or related issues.
Nongeneticists who use this book will also be surprised at how infrequently the diagnosis of these genetic diseases depends on molecular genetic testing. The diagnostic approach advocated is usually careful clinical evaluation, often with confirmation by conventional cytogenetic or fluorescence in situ hybridization testing. Even in some conditions for which molecular genetic testing is readily available, the indications for its diagnostic use are quite limited when an experienced clinical geneticist is available. Only two of the diseases included (the fragile X syndrome and the Prader-Willi syndrome) require a molecular genetic test to establish the diagnosis.
The book's title is not entirely accurate. Many of the conditions are not genetic in the usual sense -- fetal alcohol syndrome being the most striking example. Many are not syndromes, such as CHARGE association (coloboma of the eye, heart anomaly, choanal atresia, retardation, and genital and ear anomalies) and VATER association (defects of the vertebrae, anus, trachea, esophagus, radius, and kidneys). These disorders have substantial causal heterogeneity as well as extensive clinical variability, and the corresponding chapters tend to be less useful as a consequence. What I would really like to see, however, is not the substitution of a different set of disorders but the inclusion of similar, clinically useful information on another 30 (or 300) conditions.
Using this book in my clinical genetics practice will enable me to provide better advice to the families of patients with these conditions and to their primary physicians. This will be one of my most frequently used books.
J.M. Friedman, M.D., Ph.D.
Copyright © 2001 Massachusetts Medical Society. All rights reserved. The New England Journal of Medicine is a registered trademark of the MMS.
Review
"...a trove of valuable clinical information on...the most common genetic syndromes...it should certainly be on the shelf of every clinical geneticist and in the library of every pediatric tertiary care facility..." (
New England Journal of Medicine, Vol. 345, No. 6, August 9, 2001)
"...an unparalleled collection of knowledge...unique, offering a gold mine of information to the generalist pediatrician, as well as to the subspecialist.... I am sure that geneticists and pediatricians will be glad to have this book close at hand..." (American Journal of Medical Genetics, 103:350, 2001)
"Covering 30 common genetic syndromes, this book contains information on incidence, etiology, and pathogenesis, natural history, diagnostic criteria, the spectrum of variation, risk of recurrence...and the availability of prenatal diagnosis..." (SciTech Book News, Vol. 25, No. 4, December 2001)
"This book will be very popular with geneticists in training.... It will also be a useful reference for paediatricians and primary care doctors needing a reliable balanced source of information" (Human Genetics, No. 110 2002)
"...This book will be very popular..." (Human Genetics, No.110, 2002)
"a trove of valuable clinical information on 30 of the most commone genetic syndromes...it should certainly be on the shelf of every clinical geneticist and in the library of every pediatric tertiary care facility." (J. M. Friedman, M.D., Ph.D., University of British Columbia, New England Journal of Medicine, Vol. 345, No. 6, Aug. 9, 2001)
"...will be very popular with geneticists in training, providing?a comprehensive review of many important genetic syndromes...will also be a useful reference for pediatricians and primary care doctors needing a reliable balanced source of information..." (Human Genetics, Vol. 110, Published On-line: February 13, 2002)
"...a detailed practical guide for management of patients with genetic conditions?an asset to the bookshelf of any healthcare provider?also an excellent educational text..." (Journal of Genetic Counseling, Vol. 12, No. 4, August 2003)
