Smith's Recognizable Patterns of Human Malformation / Edition 6

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This user-friendly 5th Edition provides concise but complete information on numerous common and rare disorders that cause human malformation. Includes an outline of the salient features of each condition, as well as material on natural history, etiology, and pathogenesis. The text is accompanied by helpful illustrations and reference lists. Organized to allow for easy access to essential information.

The book contains black-and-white illustrations.

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Editorial Reviews

From the Publisher

"This volume is an invaluable reference for all those engaged in the areas of genetics, dysmorphology, pediatrics, and internal medicine. Dr. Jones should be congratulated for perpetuating this great book....A magnificent contribution to the field."—Archives of Pediatrics & Adolescent Medicine

Doody's Review Service
Reviewer: Luis F. Escobar, MD, MS (St. Vincent Hospital and Health Care Center)
Description: This sixth edition of a classic textbook of dysmorphology, originally written by Dr. David Smith, is a compilation of the most frequently seen clinical disorders by dysmorphologists. This has been developed as a dysmorphologic atlas with excellent clinical illustrations of each condition. The well thought out summaries provide concise information that complements the figures. Dr. Jones has outdone previous editions, presenting us with the best edition of this book so far. This is a must have tool for dysmorphologists and other care providers dealing with birth defects.
Purpose: The book defines dysmorphology as a unique discipline. It provides the required tools for the dysmorphologic approach to birth defects. The description of every condition, along with the wonderful illustrations, provides the clinical basis to understand the mechanisms of dysmorphogenesis. Dr. Jones has met his goals in reviewing the vast amount of information concerning the recognizable patterns of human malformations. The information is limited to well established and recognized conditions in clinical genetics and dysmorphology.
Audience: The audience includes a wide variety of care providers, from neonatologists who deal with birth defects to psychologists who identify unusual phenotypes in their patients. However, Smith's has traditionally been a tool of the clinical dysmorphologist. It is an easy to use reference in newborn nurseries, outreach genetic clinics, and diagnostic clinics. Dr. Jones is a recognized dysmorphologist at the international level with an excellent perspective on the importance of understanding human dysmorphogenesis to proceed with diagnostics of genetic syndromes.
Features: By definition, patterns of human malformations that consistently repeat among individuals are recognized as genetic syndromes. Smith's is a compilation of phenotypic descriptions of well recognized and established genetic syndromes. It prepares the reader for the atlas type of review with an initial chapter on the basic dysmorphology approach and classification of dysmorphogenesis. The section on physical findings by systems at the end of the book is essential for the correlation of clinical findings with specific syndromic conditions. The general alphabetical index, which was absent in early editions, is extremely helpful. The chapter on morphogenesis and dysmorphogenesis provides a great correlation between clinical knowledge and developmental biology.
Assessment: This is a high quality textbook, with excellent figures and art work. The conversion of the photographic material to color illustrations in this edition makes a significant difference in the presentation. This is an essential textbook in the field of clinical genetics and dysmorphology. Very few books have accomplished what is presented in this unique guide for clinical geneticists and dysmorphologists.
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Product Details

Table of Contents

Introduction 1
Ch. 1 Recognizable Patterns of Malformation 8
A Chromosomal Abnormality Syndromes 8
B Very Small Stature, Not Skeletal Dysplasia 88
C Moderate Short Stature, Facial, +/- Genital 112
D Senile-Like Appearance 138
E Early Overgrowth with Associated Defects 150
F Unusual Brain and/or Neuromuscular Findings with Associated Defects 170
G Facial Defects as Major Feature 230
H Facial-Limb Defects as Major Feature 256
I Limb Defects as Major Feature 300
J Osteochondrodysplasias 326
K Osteochondrodysplasia with Osteopetrosis 399
L Craniosynostosis Syndromes 412
M Other Skeletal Dysplasias 432
N Storage Disorders 450
O Connective Tissue Disorders 472
P Hamartoses 495
Q Ectodermal Dysplasias 540
R Environmental Agents 555
S Miscellaneous Syndromes 582
T Miscellaneous Sequences 602
U Spectra of Defects 642
V Miscellaneous Associations 664
Alphabetical Listing of Syndromes 671
Ch. 2 Approaches to Categorical Problems of Growth Deficiency, Mental Deficiency, Arthrogryposis, Ambiguous External Genitalia 677
Ch. 3 Morphogenesis and Dysmorphogenesis 695
Ch. 4 Genetics, Genetic Counseling, and Prevention 706
Ch. 5 Minor Anomalies as Clues to More Serious Problems and Toward the Recognition of Malformation Syndromes 727
Ch. 6 Normal Standards 747
Appendix Pattern of Malformation Differential Diagnosis by Anomalies 771
Index 845
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