"Many birth defects, although rare individually, are encountered in clinical practice and have now become treatable if properly diagnosed. In the Atlas of Genetic Diagnosis and Counseling, Harold Chen, MD, shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of 203 genetic disorders, malformations, and malformations syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available." Authoritative and up-to-date, the Atlas of Genetic Diagnosis and Counseling will help all physicians to understand and recognize genetic diseases and malformation syndromes, and consequently better evaluate, counsel, and manage affected patients.
Doody Review Services
Reviewer: Luis F. Escobar, MD, MS(St. Vincent Hospital and Health Care Center)
Description: This is a compilation of selected images that represent multiple genetic conditions. Each image is associated with a bulleted list describing the genetic disorder and each dysmorphologic condition is described in terms of genetics/pathogenesis, clinical features, diagnostic investigations and genetic counseling. The high quality illustrations are extremely helpful representations of the genetic conditions discussed.
Purpose: The author presents this atlas in the hope that will aid physicians to improve their recognition and understanding of genetic disorders and help them care for affected individuals and their families. He attempts to bring basic science and clinical medicine together for the readers and he has clearly met his objectives. The graphic representation with text descriptions will help the diagnostician, as well as the interventional geneticist who would formulate plans of treatment for affected individuals. The author indicates in his preface that this book is the reflection of his clinical experience of 38 years. It is a great example of the variety of patients seen by clinical geneticists over time. Each case is complemented with recent literature searches that provide up-to-date information. This is a strong clinical atlas. The link with basic sciences is represented by the presentation of diagnostic laboratory information that will help clinicians confirm their impressions and develop care plans. The strength of this book is the presentation of clinical information in a clear graphic manner.
Audience: The atlas is intendedfor all physicians involved in the evaluation and counseling of patients with genetic disorders, malformations, and malformation syndromes; it is not restricted to clinical geneticists. The atlas format is simple and can be used by physicians with or without a background in genetics. As any consultation tool, this book is appropriate for all physicians.
Features: Genetic diseases, malformations, and malformation syndromes are arranged alphabetically. The book covers common disorders likely to be seen in all genetic practices; it does not include rare disorders or provisionally unique phenotypes. The author includes only well established conditions and well recognized patterns of malformations. The alphabetical index in the beginning of the book makes searching for specific disorders easy and fast. A very attractive feature is the bulleted format of the narrative. It is fact oriented and does not discuss controversial issues. The book is appropriate for fast decision making on clinical grounds. Clearly, the highlight is the beautiful color illustrations that illustrate each entry.
Assessment: This is a high quality book, with excellent clinical information. The usefulness of this atlas is based on the simple format, fact-oriented presentations, and unique illustrations. Similar books exist, but this one complements publications such as Smith's Recognizable Patterns of Human Malformation, 6th Edition, by Jones (Elsevier, 2006). This book is an excellent contribution to the field of dysmorphology. It differs from others in the field in the simplicity of presentation of the information, which makes it useful to a wide variety of physicians.
* ISBN: 1588296814
* ISBN-13: 9781588296818
* Format: Hardcover, 1076pp
* Publisher: Springer-Verlag New York, LLC
* Pub. Date: July 2005
* Sales Rank: 528,243