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Doody's Review ServiceReviewer: Luis F. Escobar, MD, MS (St. Vincent Hospital and Health Care Center)
Description: Based on the birth defects surveillance program that Dr. Holmes initiated at Boston Lying-In Hospital and his personal observations as a masterful dysmorphologist, this book reviews the most frequently seen congenital malformations in the practice of clinical genetics. It also includes information from multiple publications on the prevalence rate and etiologic heterogeneity of the most common malformations.
Purpose: This is not intended to be an exhaustive review of congenital malformations, but a review of the most prevalent clinical situations medical geneticists may encounter. It provides perspective on the frequency and prevalence features of specific malformations accounting for ethnicity, parental age, genetic factors, and environmental issues involved in the malformations.
Audience: "As a clinical tool, this book is directed at professionals involved in the practice of medical genetics with an emphasis on dysmorphology. It is an excellent consultation tool for experienced clinicians, but also a valuable companion for medical students, medical genetics residents, and pediatricians who take care of newborns. Neonatology specialists will find the information essential for their daily practice in the neonatal intensive care unit. Dr. Holmes is a distinguished figure in dysmorphology and his authority in the area is unquestionable. "
Features: The 27 chapters cover the most prevalent malformations seen by clinical geneticists and include a chapter on general dysmorphology that discusses minor anomalies/normal variations (25) and a chapter on anthropologic measurements (27). Each chapter describes one malformation and the variable presentation. It includes a historical note, anatomic description link to prevalence, ethnicity, sex ratio, sidedness, association to parental age, and twinning, and discusses genetic and environmental factors. A brief section on genetic counseling ends each chapter. The well-planned illustrations are illustrative of the malformations discussed. A brief color atlas of skin lesions appears on page 406 to illustrate common birthmarks.
Assessment: This is a fantastic effort by Dr. Holmes and the book surpasses all expectations. He demonstrates his authority in the field and uses his wonderful teaching skills to impart knowledge in clear and simple terms that meet the needs of both experienced and novice learners in clinical genetics.