Human Malformations and Related Anomalies

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Human Malformations and Related Anomalies (3 ed.)

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

Abstract

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.

Bibliographic Information

Publisher:: Oxford University Press

Print Publication Date:: Oct 2015

Print ISBN-13:: 9780199386031

Published online:: Oct 2015

DOI:: 10.1093/med/9780199386031.001.0001

Authors

Roger E. Stevenson, editor Senior Clinical Geneticist, Greenwood Genetic Center

Judith G. Hall, editor Professor Emerita of Pediatrics and Medical Genetics, University of British Columbia

David B. Everman, editor Associate Clinical Geneticist, Greenwood Genetic Center

Benjamin D. Solomon, editor Chief of Medical Genomics and Associate Professor of Pediatrics, Inova Translational Medicine Institute and Virginia Commonwealth University

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Front Matter
- Preface
- Acknowledgments
- Contributors
Introduction Roger E. Stevenson and Judith G. Hall
1 Limbs Roger E. Stevenson
2 Hands and Feet David B. Everman
3 Pectoral and Pelvic Girdles Louanne Hudgins and Neda Zadeh
4 Spine and Thoracic Cage Louanne Hudgins and Neda Zadeh
5 Skull John M. Graham, Jr. and Pedro A. Sanchez-Lara
6 Facial Bones Karen Gripp
7 Skin, Hair, and Nails Mary Beth Palko Dinulos
8 Muscle Judith G. Hall
9 Brain Alasdair G. W. Hunter
10 Spinal Cord David Dyment
11 Brain and Spinal Cord Roger E. Stevenson
12 The Eye Elias I. Traboulsi, Shomoukh AlShamekh, and Natario L. Couser
13 External Ear Dorothy K. Grange
14 Middle Ear John C. Carey and Albert H. Park
15 Inner Ear Eloise J. Prijoles
16 Nose Margaret P. Adam
17 Lips and Palate Marilyn Jones
18 The Tongue Michael L. Cunningham
19 Teeth Hitesh Kapadia
20 Heart Paul Stephen Kruszka and Laura Olivieri
21 Systemic Vasculature Lynne M. Bird
22 Lymphatic System Stavit Allon Shalev
23 Spleen Arthur S. Aylsworth
24 The Lower Respiratory Organs Caleb P. Bupp and Roger E. Stevenson
25 Ventral Wall of the Trunk Cynthia J. Curry and Jacob S. Hogue
26 Upper Gastrointestinal Tract H. Eugene Hoyme and Roger E. Stevenson
27 Small and Large Intestines Roger E. Stevenson
28 Rectum and Anus Cathy A. Stevens
29 Liver, Gall Bladder, and Pancreas Ian D. Krantz and Kosuke Izumi
30 The Urinary Tract Jane Alison Evans
31 Male Genital System Roger E. Stevenson
32 Female Genital System Leah W. Burke
33 Breasts Roger E. Stevenson
34 Asymmetric Growth and Generalized Overgrowth Jennifer M. Kalish
35 Twins Judith G. Hall
36 Umbilical Cord and Placenta Isabel Filges
End Matter
- Appendix Syndromes Associated with Malformations and Related Anomalies
- Index

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date: 20 April 2021

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Human Malformations and Related Anomalies (3 ed.)

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

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Human Malformations and Related Anomalies (3 ed.)

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

Abstract

Bibliographic Information

Authors

Share Link

Contents