Common Malformations

ISBN: 9780195136029
ISBN-10: 0195136020
Copyright: 2012
Edition: 1st
Editor: Holmes, Lewis B.
Doody's Expert Review    Score: 100
Reviewer: Luis Escobar,  MD., MS.  (Peyton Manning Children's Hospital)
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.
Review Questionnaire
Range Question Score
1-10 Are the author's objectives met? 10
1-10 Rate the worthiness of those objectives. 10
1-5 Is this written at an appropriate level? 5
1-5 Is there significant duplication? (1=significant, 5=insignificant) 5
1-5 Are there significant omissions? (1=significant, 5=insignificant) 5
1-5 Rate the authority of the authors. 5
1-5 Are there sufficient illustrations? 5
1-5 Rate the pedagogic value of the illustrations. 5
1-5 Rate the print quality of the illustrations. 5
1-5 Are there sufficient references? 5
1-5 Rate the currency of the references. 5
1-5 Rate the pertinence of the references. 5
1-5 Rate the helpfulness of the index. 5
1-5 If important in this specialty, rate the physical appearance of the book 5
1-10 Is this a worthwhile contribution to the field? 10
1-10 If this is a 2nd or later edition, is this new edition needed? N/A