on August 9, 2011
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.
(clinical and metabolic geneticist)