Common Malformations / Edition 1

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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 from many sources the information needed for a full diagnostic evaluation and discussion of treatment options and genetic counseling. 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.

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Editorial Reviews

Doody's Review Service
Reviewer: 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.
From the Publisher

"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." -- Doody's

"This is one such rare text. It presents very well, in text and illustrations, cases of a large variety and number of common malformations in infants and children. It discusses genetic causes, presents treatment options, and even preventive measures.
Dr. Lewis B. Holmes has researched well into malformations and written a simply outstanding volume on this rare subject. We congratulate him on his work and recommend readers-- parents and healthcare professionals as well--to get a copy of this very useful book on birth defects and their causes." -- Nano Khilnani, BizIndia

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Product Details

  • ISBN-13: 9780195136029
  • Publisher: Oxford University Press, USA
  • Publication date: 9/29/2011
  • Edition number: 1
  • Pages: 480
  • Product dimensions: 8.60 (w) x 11.10 (h) x 1.00 (d)

Meet the Author

Lewis B. Holmes, MD, is an internationally respected expert in genetics and teratology. He is Professor of Pediatrics at Harvard Medical School and Chief of the Genetics and Teratology Unit, Pediatric Services, Massachusetts General Hospital in Boston.

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Table of Contents

Chapter 1: The Approach to the Malformed Newborn
Chapter 2: Amniotic bands
Chapter 3: Bowel atresias i. Duodenal atresia ii. Esophageal atresia iii. Imperforate anus iv. Jejunoileal atresia
Chapter 4: Chromosome abnormalities: Introduction i. Trisomy 21
ii. Trisomy 18
iii. Trisomy 13
Chapter 5: Cleft lip and palate
Chapter 6: Cleft palate
Chapter 7: Club foot
Chapter 8: Cryptorchidism
Chapter 9: Congenital Diaphragmatic hernia
Chapter 10: Gastroschisis
Chapter 11: Heart defects
Chapter 12: Hip dysplasia
Chapter 13: Holoprosencephaly
Chapter 14: Hypospadias
Chapter 15: Limb malformations i. Polydactyly a. postaxial b. preaxial ii. Polysyndactyly iii. Longitudinal deficiency a. preaxial, absence of thumb/radius b. preaxial, absence of first toe/tibia c. postaxial, absence of fifth finger/ulna d. postaxial, absence of fifth toe/fibula iv. Split-hand/split-foot v. Syndactyly vi. Terminal transverse limb defects vii. Central digit hypoplasia
Chapter 16: Microphthalmia/Anophthalmia
Chapter 17: Microtia
Chapter 18: Neural tube defects i. anencephaly ii. cloacal exstrophy iii. encephalocele iv. iniencephaly v. lipomeningocele vi. meningocele vii. myelomeningocele
Chapter 19: Omphalocele
Chapter 20: Renal agenesis/dysgenesis
Chapter 21: Skeletal dysplasias
Chapter 22: Vertebral anomalies: hemivertebra
Chapter 23: Patterns of Malformations i. Non-random clusters a. Cantrell Pentalogy b. CHARGE Association c. hemifacial microsomia d. otocephaly e. Poland anomaly f. urethral obstruction: prune g. belly syndrome h. vii. VACTERL Association
Chapter 24: Twinning: Introduction i. acardia ii. conjoined twins iii. sirenomelia iv. twin-twin transfusion
Chapter 25: Minor Anomalies/Normal Variations
Chapter 26: Birth Marks
Chapter 27: Anthropologic measurements

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