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