Management Of Genetic Syndromes

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. 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.