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Human Malformations and Related Anomalies

Edited by Roger E. Stevenson, Judith G. Hall, David B. Everman and Benjamin D. Solomon

Third edition

Published on behalf of Oxford University Press

Published in print October 2015 | ISBN: 9780199386031
Published online October 2015 | e-ISBN: 9780199386055 | DOI: http://dx.doi.org/10.1093/med/9780199386031.001.0001

Series: Oxford Monographs on Medical Genetics

Human Malformations and Related Anomalies

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  • Clinical Genetics
  • Dermatology
  • Otolaryngology (ENT)
  • Cardiovascular Medicine
  • Obstetrics and Gynaecology

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Malformations are found in 2%-3% of all infants born in the United States. An additional equal number of infants are later found to have malformations that were not obvious at birth. The third edition of Human Malformations and Related Anomalies is a comprehensive compilation of significant human malformations authored by 40 authorities in the field of genetics and dysmorphology. It introduces a new format that allows easy access to essential information on each major human malformation. The abbreviated text on clinical presentation, associated anomalies, treatment, and prognosis is combined with the liberal use of line drawings, photographs, radiographs, and other images to give a succinct composite view of each malformation. The anatomical and molecular embryology is set out in a consistent manner in the introduction to each organ system. An appendix provides a synopsis of the 500 syndromes that are most commonly associated with structural birth defects. The volume utilizes a blend of time-tested terminology and the nomenclature recommended by an international group of clinical geneticists and dysmorphologists. Where available, advances in the understanding of the causes of malformations acquired through the new and emerging genetic and genomic technologies are recognized.

Book.  1000 pages.  Illustrated.

Subjects: Clinical Genetics ; Dermatology ; Otolaryngology (ENT) ; Cardiovascular Medicine ; Obstetrics and Gynaecology

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Table of Contents

Introduction in Human Malformations and Related Anomalies

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Limbs in Human Malformations and Related Anomalies

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Hands and Feet in Human Malformations and Related Anomalies

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Pectoral and Pelvic Girdles in Human Malformations and Related Anomalies

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Spine and Thoracic Cage in Human Malformations and Related Anomalies

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Skull in Human Malformations and Related Anomalies

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Facial Bones in Human Malformations and Related Anomalies

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Skin, Hair, and Nails in Human Malformations and Related Anomalies

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Muscle in Human Malformations and Related Anomalies

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Brain in Human Malformations and Related Anomalies

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