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Doody's Review ServiceReviewer: Melissa Parisi, MD, PhD (University of Washington School of Medicine)
Description: This is a much needed review of overgrowth syndromes written by several of the pioneers in the field. This readable book is filled with informative tables and illustrations, and includes a discussion of neoplasms encountered in several of the syndromes.
Purpose: The authors' goal is to make the complex subject of overgrowth syndromes accessible to a wide variety of medical professionals, while incorporating the rapidly progressing molecular understanding of these conditions. This is a confusing subject requiring clarity, and this book serves as an excellent first attempt to provide a consistent approach to overgrowth syndromes.
Audience: The authors assert that the target audience for this book includes pediatricians, geneticists, oncologists, pathologists, and molecular biologists, among other medical specialists. This is a lofty goal, and the audience most likely to benefit from this book is the clinical geneticist with experience in dysmorphology who encounters patients with overgrowth features and is striving for a differential diagnosis. Others, such as pediatricians and pathologists with a particular interest in either regional or global overgrowth conditions, or those who "dabble" in dysmorphology, may also find it enjoyable. The authors have a shared collaborative interest and expertise in overgrowth conditions and a mission to spread knowledge about the subject..
Features: The book covers the major overgrowth syndromes encountered in routine clinical genetics practice (including, but not limited, Beckwith-Wiedermann syndrome, Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Proteus syndrome), as well as more obscure conditions such as Bannayan-Riley-Ruvalcaba syndrome. Chapters are devoted to vascular conditions, fetal hydrops, and maternal and endocrine effects, as well as chromosomal disorders associated with overgrowth conditions. Strengths of the book include its comprehensive inclusion of almost every possible genetic condition ever described with regional or global overgrowth and its attempts at consistent presentation. The chapter on Beckwith-Wiedermann syndrome is particularly well written, with a thoughtful review of a complex molecular topic. The treatment of cancer risks for particular syndromes is informative, as are the majority of photographs and other illustrations. There are some inconsistencies in the presentation of details about several of the conditions, and some of the subjective opinions of the authors are presented as established facts. It would be helpful to see more practical management guidelines for some of the syndromes as well.
Assessment: This is an excellent book for the clinical geneticist or any other clinician who routinely encounters individuals with overgrowth. Although these conditions are often included in comprehensive medical genetics books, there is no comparable book available with this degree of depth and devotion to the subject, and with this attention to current molecular details. This book is the first of its kind and is a welcome addition to the field.