Smith's Recognizable Patterns of Human Malformation - 8th Edition - ISBN: 9780323638821, 9780323638838

Smith's Recognizable Patterns of Human Malformation

8th Edition

Authors: Kenneth Jones Marilyn Jones Miguel del Campo
eBook ISBN: 9780323638838
Hardcover ISBN: 9780323638821
Imprint: Elsevier
Published Date: 9th June 2021
Page Count: 1088
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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