Although genetic disorders and syndromes are usually considered rare, their aggregate frequency makes them an inescapable part of medicine. It is crucial that affected individuals, their families, and their primary and specialty care physicians have an accurate and reliable resource so that the best care possible can be provided. Furthermore, with the remarkable surge of information that has become available due to networking of researchers and families, the development of support groups, and the availability of research reports and data, it is essential for one reference to contain all of this material organized in an easy-to-use manner. Management of Genetic Syndromes fills this vital need. Through an in-depth understanding of a specific disorder, physicians and parents can help patients reach their full potential, benefit from useful therapies, and avoid complications. Management of Genetic Syndromes is written by expert authors and offers a practical approach to the evaluation and management of the 30 most common genetic syndromes from birth to adulthood. It provides information about the spectrum of variation that can occur, risk of recurrence in the affected individual's siblings and offspring, and whether prenatal diagnosis and diagnostic testing are available. Management of Genetic Syndromes incorporates a wealth of knowledge and experience with each chapter containing detailed coverage of: Incidence Etiology and pathogenesis Natural history Diagnostic criteria Diagnostic testing Differential diagnosis Evaluation Management Reference and resources This essential book will offer medical geneticists, clinical geneticists, human geneticists, pediatricians, and other health care professionals insight into treatment and management, as well as the development of new interventions and therapies.
"...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)
"...an unparalleled collection of knowledge...unique, offering a gold mine of information to the generalist pediatrician, as well as to the subspecialist..." (American Journal of Medical Genetics, 103:350, 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)
