Smith's Recognizable Patterns of Human Malformation: Expert Consult - Online and Print

✍ Scribed by Kenneth Lyons Jones MD, Marilyn Crandall Jones MD, Miguel del Campo MD PhD

• Publisher: Elsevier
• Year: 2021
• Tongue: English
• Leaves: 1091
• Edition: 8
• Category: Library

✦ Synopsis

Long known as the go-to resource for superbly illustrated, up-to-date coverage in this complex field, Smith's Recognizable Patterns of Human Malformation, 8th Edition, provides a wealth of information on malformation syndromes of environmental and genetic etiology, recognizable disorders of unknown cause, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of disorders. This award-winning reference is indispensable for clinicians in pediatrics, neonatology, family medicine, and genetics, as well as nurse practitioners and physician assistants―anyone who needs a complete, authoritative, and easy-to-read guide to help accurately diagnose human disorders, establish prognoses, and provide appropriate management and genetic counseling.

• Includes an easy-to-read description of each condition: Common and occasional abnormalities, natural history, etiology, and references. Opposing pages contain descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality. 

• Contains new coverage of Hennekam Syndrome, Parkes Weber Syndrome, KBG Syndrome, Kosaki Overgrowth, Malan Syndrome, and much more. 

• Arranges disorders based on similarity in overall features, so you can easily navigate to the correct section and compare/contrast similar disorders. 

• Features more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones, and others from multiple international collaborators. 

• Provides summarized information in order to understand basic mechanisms of morphogenesis and birth defects and key concepts in genetics and genetic testing―necessary information for counseling patients and parents. 

• Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.

✦ Table of Contents

Front Cover
IFC
Smith's Recognizable Patterns of Human Malformation
Smith's Recognizable Patterns of Human Malformation
Copyright
Dedication to the First Edition
Acknowledgments
Contents
Smith's Recognizable Patterns of Human Malformation
Introduction - Dysmorphology Approach and Classification
1 - Recognizable Patterns of Malformation
A - Chromosomal Abnormality Syndromes Identifiable on Routine Karyotype
B - Deletion, Duplication, and Microduplication Syndromes Identifiable Using MolecularTechnology
C - Very Small Stature, Not Skeletal Dysplasia
D - Moderate Short Stature, Facial, ± Genital
E - Senile-LikeAppearance
F - Early Overgrowth with Associated Defects
G - Unusual Brain and/or Neuromuscular Findings with Associated Defects
H - Facial Defects as Major Feature
I - Facial-Limb Defects as Major Feature
J - Limb Defect as Major Feature
K - Osteochondrodysplasias
L - Osteochondrodysplasia with Osteopetrosis
M - Craniosynostosis Syndromes
N - Other Skeletal Dysplasias
O - Storage Disorders
P - Connective Tissue Disorders
Q - Hamartoses
R - Ectodermal Dysplasias
S - Environmental Agents
T - Miscellaneous Syndromes
U - Miscellaneous Sequences
V - Spectra of Defects
W - Miscellaneous Associations
2 - Genetics, Genetic Counseling, and Prevention
3 - Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes
4 - Normal Standards
Pattern of Malformation Differential Diagnosis by Anomalies
Index
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
IBC