Human Malformations and Related Anomalies / Edition 2

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This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, and the revised edition fully incorporates the advances made in the field during the intervening years.. It reflects new understanding of human developmental biology that has emerged from molecular, cytogenetic, and biochemical studies; new observations by clinicians as well as enhanced diagnostic and prevention capacities; and more accurate and comprehensive epidemiology. By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. Stevenson and Hall and their contributors have managed to update the book while reducing its size to that of a single volume. All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.

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Editorial Reviews

Doody's Review Service
Reviewer: Luis F. Escobar, MD, MS (St. Vincent Hospital and Health Care Center)
Description: Human Malformations and Related Anomalies, Second Edition is an excellent contribution to the dysmorphology field. It provides a unique approach to the referenced information, deviating from the classical approach of syndromic description to developing a system where specific birth defects are reviewed individually and linked to the most common forms of presentation. This reference textbook provides a wonderful review of the embryologic process involved in the causation of specific birth defects. It provides excellent listings of syndromes seen in association with specific birth defects. Such listings are an excellent aid to the dysmorphologist to develop differential diagnoses in clinical consultations. As described by the authors, ten years have elapsed since the publication of the first edition of Human Malformations. This second edition has been condensed in one single volume. Current tables include new information on specific locus/genes linked to the disorders included in each chapter.
Purpose: Dr. Stevenson and Hall have accomplished a great objective. They have been able to compile in an easy to read manner a body of information that links individual anomalies to malformation syndromes. This is a novel approach which helps the clinician understand each individual anomaly embryological process. By providing this information, Human malformations allows the genetics consultant with the ability to conduct an extremely refined search for information based on the differential diagnosis provided. This is a must have textbook.
Audience: Human Malformations and Related Anomalies is a magnificent tool for the health care provider involved in the care of patients with birth defects. The clinical geneticists will benefit from the ability to review dysmorphology evaluation quickly and efficiently during clinical consultations. In addition, it would help the medical students or physicians in training to understand the embryology of birth defects and their significance in clinical prognosis. In addition, Human Malformations will aid the genetic counselors to provide accurate information and simple explanations to parents of affected children with individual birth defects.
Features: Human Malformations covers individual birth defects by specific physical structures categorized by systems. By discussing each anomaly individually, it makes the search for specific information easy and fast. A perfect example is the chapter dedicated to aglossia (page 791) which is a unique set of information rarely discussed in other textbooks but extremely useful to determine the etiology, natural history and clinical implications of this rare anomaly. Clearly, Human Malformations is a unique approach to dysmorphology that has no predecessors. This second edition has been well thought and planned. The compilation from a two volume first edition to one volume was an excellent idea.
Assessment: It is difficult to compare this textbook to others in the market as the way the information is presented here is so unique. Drs. Stevenson and Hall have gotten together an incredible team of authors from the dysmorphology world. This one of the highest quality works in the genetics market at this time. It is a broad overview of birth defects from the embryological perspective. It is very clear that future editions would be greatly appreciated by the Clinical Genetics World.
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Product Details

  • ISBN-13: 9780195165685
  • Publisher: Oxford University Press, USA
  • Publication date: 8/26/2005
  • Series: Oxford Monographs on Medical Genetics Series , #52
  • Edition description: REV
  • Edition number: 2
  • Pages: 1520
  • Product dimensions: 11.10 (w) x 8.90 (h) x 2.40 (d)

Meet the Author


University of British Columbia

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Table of Contents

Part I. Overview, Roger E. Stevenson
Part II. Cardiorespiratory Organs, Angela E. Lin, John Belmont, and Sadia Ghaffar
3. Systemic Vasculature, Lynne M. Bird and Kenneth Lyons Jones
4. Lymphatic System, Judith E. Allanson
5. Spleen, Arthur S. Aylsworth
6. Lower Respiratory Organs, Laurie H. Seaver
Part III. Craniofacial Structures, John M. Graham, Jr.
8. Facial Bones, Karen Gripp and Louis Fernando Escobarr
9. Eye, Elias I. Traboulsi
10. Ear, John C. Carey, Albert H. Park, and Daryl Scottr
11. Nose, M. Michael Cohen, Jr.r
12. Lips, Marilyn Jones
13. Tongue, Robert J. Gorlin
14. Teeth, Rena N. D'Souza, Hitesh Kapadia, and Alexandre R. Vieira
Part IV Neuromuscular Systems.
15. Brain, Alasdair G. W. Hunter
16. Brain and Spinal Cord, Alasdair G. W. Hunter
17. Spinal Cord, Alasdair G. W. Hunter
18. Muscle, Judith G. Hall
Part V. Skeletal System
19. Pectoral Girdle, Spine, Ribs and Pelvic Girdle, Louanne Hudgins and Keith Vaux
20. Limbs, Roger E. Stevenson
21. Hands and Feet, David B. Everman
22. Skeletal Dysplasias, Jurgen Spranger
Part VI Gastrointestinal and Related Structures.
23. Ventral Wall of the Trunk, Cynthia Curry, Ellen Boyd, and Roger E. Stevenson
24. Upper Gastrointestinal System, H. Eugene Hoyme
25. Small and Large Intestines, Eberhard Passarge and Roger E. Stevensonr
26. Rectum and Anus, Cathy A. Stevens
27. Liver, Gallbladder and Pancreas, Ian D. Krantz and Arthur S. Aylsworth
Part VII. Urogenital System Organs
28. Urinary Tract, Jane A. Evans
29. Male Genital System, Rick A. Martin
30. Female Genital System, Leah W. Burke
Part VIII. Other
31. Cutaneous Structures, Julie S. Prendiville
32. Endocrine System, Amy Potter and John A.
Phillips, III
33. Asymmetry and Hypertrophy, Omar Abdul-Rahman and H. Eugene Hoyme
34. Twins, Mary C. Phelan and Judith G. Hall
35. Umbilical Cord, Will Blackburn

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