Smith's Recognizable Patterns of Human Malformation, 8th Edition

Authors :

Kenneth Lyons Jones & Marilyn Crandall Jones & Miguel del Campo

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.

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Description

Key Features

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.

Author Information

By Kenneth Lyons Jones, MD, Professor of Pediatrics; Chief, Division of Dysmorphology and Teratology, University of California, San Diego, School of Medicine, La Jolla, California; Marilyn Crandall Jones, MD, 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, MD, PhD, Assistant Professor, Ciències Experimentals i de la Salut, Universitat Pompeu Fabra and Consultant in Clinical Genetics, Programa de Medicina Molecular I Genètica, Hospital Vall d´Hebron, Barcelona, Spain

Product Details

More Information
ISBN Number	9780323638821
Main Author	By Kenneth Lyons Jones, MD, Marilyn Crandall Jones, MD and Miguel del Campo, MD, PhD
Copyright Year	2022
Edition Number	8
Format	Book
Trim	184w x 260h (7.25" x 10.25")
Illustrations	1454
Imprint	Elsevier
Page Count	1088
Publication Date	3 Jun 2021
Stock Status	IN STOCK

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

Published Reviews

“While individual conditions are rare, for pediatricians, managing patients with rare diseases is a part of our core work. This reference book is written in a clear, diverse, and accessible fashion, with an excellent range of clinical photographs and diagrams to deliver the key messages in a concise format. This will be a very valuable resource to determine the diagnosis and improve the management of patients with dysmorphology. -Winner of the BMA Medical Book Awards 2022 Pediatrics and Child Health Category

Winner of the BMA Medical Book Awards 2022 Paediatrics and Child Health Category
“While individual conditions are rare, for paediatricians, managing patients with rare diseases is a part of our core work. This reference book is written in a clear, diverse, and accessible fashion, with an excellent range of clinical photographs and diagrams to deliver the key messages in a concise format. This will be a very valuable resource to determine the diagnosis and improve the management of patients with dysmorphology.

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https://www.us.elsevierhealth.com/smiths-recognizable-patterns-of-human-malformation-9780323638821.html 167898 Smith's Recognizable Patterns of Human Malformation https://www.us.elsevierhealth.com/media/catalog/product/9/7/9780323638821.jpg 93.59 116.99 USD InStock /Medicine/Pediatrics /Books /Residents Sale /Get Free Thirty-Day Access With a Purchase 15 5255039 5494378 5721387 1 3 8 5145120 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. 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. 0 0 add-to-cart 9780323638821 2021 Professional By Kenneth Lyons Jones, MD, Marilyn Crandall Jones, MD and Miguel del Campo, MD, PhD 2022 8 Book 184w x 260h (7.25" x 10.25") 1454 Elsevier 1088 Jun 3, 2021 IN STOCK By Kenneth Lyons Jones, MD, Professor of Pediatrics; Chief, Division of Dysmorphology and Teratology, University of California, San Diego, School of Medicine, La Jolla, California; Marilyn Crandall Jones, MD, 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, MD, PhD, Assistant Professor, Ciències Experimentals i de la Salut, Universitat Pompeu Fabra and Consultant in Clinical Genetics, Programa de Medicina Molecular I Genètica, Hospital Vall d´Hebron, Barcelona, Spain Books, eBooks Books No No No No Please Select Please Select Please Select

Smith's Recognizable Patterns of Human Malformation, 8th Edition

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