Common Malformations

Common Malformations
2012 © Oxford University Press, Inc.
Lewis B. Holmes MD
ISBN-13: 978-0-19-513602-9
Genetics, Pediatrics


This extensively illustrated reference work is designed for health professionals who care for newborn infants including neonatologists, pediatricians, NICU nurses, pediatric neurologists, pediatric surgeons, geneticists, and genetic counselors. It describes the most common malformations and draws the information needed for a full diagnostic evaluation and discussion of treatment options and genetic counseling from many sources.
The text also covers minor anomalies, birthmarks and includes dozens of charts of anthropologic measurements, material that is needed in the initial physical examination to describe an infant's physical features. With over 400 photographs and original illustrations, Dr. Holmes has created an authoritative, well organized, and easy to use reference guide to common malformations of the infant, which will become an invaluable tool in hospitals and neonatal clinics across the world.

The text is grounded in research gathered from the Active Malformations Surveillance Program conducted since 1972 at Brigham and Women's Hospital in Boston, Massachusetts. The program began as a three year study which monitored over 18,155 births and aimed to determine the frequency of many major malformations. The study was expanded to include minor physical features and birth marks. This text includes many never-before published photographs from these studies, as well as other major research findings in this area.


  • • The text is illustrated by over 400 photographs and original drawings, most of which have never been published before
  • • The text features a full chapter on anthropologic measurements used to conduct the initial examination of an infant and determine the degree of abnormality
  • • Developed from decades of research from the Active Malformations Surveillance Program at Brigham and Women's Hospital in Boston

Doody's Reviews

Score: 100/100
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Quotes, Reviews or Testimonials

"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."

-- Luis Escobar, MD, MS (St. Vincent Hospital and Health Care Center) Doody's Review


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.

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