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The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded
A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders.
Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides:
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A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families
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Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management
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A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis
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Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews
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A list of family support organizations and resources for professionals and families
Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders.
From a review of the first edition:
"An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
- Sales Rank: #985993 in Books
- Published on: 2010-04-05
- Original language: English
- Number of items: 1
- Dimensions: 11.30" h x 1.75" w x 8.70" l, 5.20 pounds
- Binding: Hardcover
- 984 pages
Review
“Given that this is a book that has a useful place, potentially, in the clinic of any general paediatrician as will show all the wear and tear features of being well turned and well read."� (Human Genetics, 22 March 2011)
About the Author
Suzanne Cassidy, MD, is Clinical Professor of Pediatrics at University of California, San Francisco and at University of California, Irvine. She is a board-certified Medical Geneticist and Pediatrician who has focused on care of individuals with genetic syndromes throughout her 30-year academic and clinical career. She is devoted to educating medical geneticists, having served on the American Board of Medical Genetics and the founding Residency Review Committee for Medical Genetics, as well as directed genetics training programs in 4 institutions. She served on the board of directors of the American Society of Human Genetics and as a member of the Board of Scientific Counselors of National Center for Human Genome Research at NIH. She has been identified as one of 'America's Top Doctors'.
Judith E. Allanson, MD, is Chief of the Department of Genetics, and Professor of Pediatrics at the University of Ottawa.� She is a board-certified Medical Geneticist and Internist with longstanding interests in pattern recognition, syndrome identification and management.
Most helpful customer reviews
5 of 5 people found the following review helpful.
Great for Primary Care Physicians and Specialists
By Derek Wong
This is an outstanding work edited by two of the preeminent clinical geneticists in the field. While the title suggests that it is aimed at geneticists, the intended audience includes both primary care providers and specialists who care for these patients. During my short stint as a program director, I told my pediatric residents that this was the one book that I wished was available when I was in pediatric practice. Although some experienced dysmorphologists will know much of the information in the book, many metabolic or other geneticists who see dysmorphology patients will benefit tremendously from reading it.
The book recognizes that families do not just want a diagnosis; they want solutions to the medical problems that these patients face. Although there are many online resources (Genereviews, journal articles, etc), most references describe the clinical findings and diagnostic tests that establish the diagnosis, with further information on the underlying molecular mechanisms and some aspects of treatment. However, practical advice for patient care is often scattered over many articles, or exists in the experience of experts in each particular disorder. Management of Genetic Syndromes has diagnostic and molecular information, but the primary sections are system based discussion of medical problems, from seizures to constipation to schizophrenia. Medical genetics is young enough that some of the chapter authors wrote the original descriptions of "their" syndrome.
A book like this cannot exist without some limitations.
1. The price is high. The older editions of this book, especially the second edition are still excellent references for primary care practitioners. My first edition fell apart even before I started using it heavily, but the second and third edition held up better.
2. Although over 60 of the most common syndromes are addressed in detail, there are many that cannot be covered. For those, orpha.net has some references, as well as genereviews.
3. There has been an increase in clinical research on genetic syndromes in recent years, so Pubmed searches are still essential.
4. Online access is limited to libraries, and some major universities do not have the title in their collection.
In conclusion, a million thanks to the authors and editors for a wonderful and invaluable text. It is the closest thing to "my precious" in my book collection.
Derek Wong
(clinical and metabolic geneticist)
2 of 2 people found the following review helpful.
A step towards perfection
By Jo�o Neri
A book well written and updated, bringing practical and useful information for day by day of clinical geneticist. Just missed a step towards perfection, color photos.
1 of 1 people found the following review helpful.
Management of Genetic Syndromes
By R. Zayed
It is an excellent reference for medical genetics in a very interesting clinical context. It is a must-have for every geneticist and a great genetic resource for clinicians with excellent diagnostic tips.
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