
Smith's Recognizable Patterns of Human Malformation
8th Edition
Description
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.
Table of Contents
Section/Chapter 1 Recognizable Patterns of Malformations
1. A Chromosomal Abnormality Syndromes Identified on Routine Karyotype
2. B Deletion, Duplication And Microduplication Syndromes Identifiable Using Molecular Technology
3. C Very Small Stature, Not Skeletal Dysplasia
4. D Moderate Short Stature, Facial and Genital
5. E Senile-Like Appearance
6. F Early Overgrowth with Associated Defects
7. G Unusual Brain and/or Neuromuscular Findings with Associated Defects
8. H Facial Defects as Major Feature
9. I Facial-Limb Defects as Major Feature
10. J. Limb Defect as Major Feature
11. K. Osteochondrodysplasias
12. L. Osteochondrodysplasia with Osteopetrosis
13. M. Craniosynostosis Syndromes
14. N. Other Skeletal Dysplasias
15. O. Storage Disorders
16. P. Connective Tissue Disorders
17. Q. Hamartoses
18. R. Ectodermal Dysplasias
19. S. Environmental Agents
20. T. Miscellaneous Syndromes
21. U. Miscellaneous Sequences
22. V. Spectra of Defects
23. W. Miscellaneous Associations
SECTION/CHAPTER 2 Genetics, Genetic Counseling and Prevention
24. CH 2 Genetics, Genetic Counseling and Prevention
SECTION/CHAPTER 3: Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes
25. CH 3. Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes
SECTION/CHAPTER 4: Normal Standards
26. CH 4 Normal Standards
Appendix I
27. Appendix 1: Pattern of Malformation Differential Diagnosis by Anomaliees
Details
- No. of pages:
- 1088
- Language:
- English
- Copyright:
- © Elsevier 2021
- Published:
- 9th June 2021
- Imprint:
- Elsevier
- eBook ISBN:
- 9780323638838
- Hardcover ISBN:
- 9780323638821
About the Authors
Kenneth Jones
Affiliations and Expertise
Professor of Pediatrics; Chief, Division of Dysmorphology and Teratology, University of California, San Diego, School of Medicine, La Jolla, California
Marilyn Jones
Affiliations and Expertise
Professor of Clinical Pediatrics, Department of Pediatrics, University of California, San Diego School of Medicine La Jolla, California; Clinical Service Chief, Division of Genetics, Rady Children’s Hospital, San Diego, California
Miguel del Campo
Affiliations and Expertise
Assistant Professor, Ciències Experimentals i de la Salut, Universitat Pompeu Fabra; Consultant in Clinical Genetics, Programa de Medicina Molecular I Genètica, Hospital Vall d´Hebron, Barcelona, Spain
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