Smith’s Recognizable Patterns of Human Malformation 8th Edition
Smith’s Recognizable Patterns of Human Malformation Eighth Edition:
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.
∗ eText ISBN: 032363883X, 978-0323638838, 9780323638838
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Smith’s Recognizable Patterns of Human Malformation 8th Edition:
Section/Chapter 1 Recognizable Patterns of Malformations
A Chromosomal Abnormality Syndromes Identified on Routine Karyotype
B Deletion, Duplication And Microduplication Syndromes Identifiable Using Molecular Technology
C Very Small Stature, Not Skeletal Dysplasia
D Moderate Short Stature, Facial and Genital
E Senile-Like Appearance
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
L. Osteochondrodysplasia with Osteopetrosis
M. Craniosynostosis Syndromes
N. Other Skeletal Dysplasias
O. Storage Disorders
P. Connective Tissue Disorders
R. Ectodermal Dysplasias
S. Environmental Agents
T. Miscellaneous Syndromes
U. Miscellaneous Sequences
V. Spectra of Defects
W. Miscellaneous Associations
SECTION/CHAPTER 2 Genetics, Genetic Counseling and Prevention
CH 2 Genetics, Genetic Counseling and Prevention
SECTION/CHAPTER 3: Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes
CH 3. Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes
SECTION/CHAPTER 4: Normal Standards
CH 4 Normal Standards
Appendix: Pattern of Malformation Differential Diagnosis by Anomaliees