Smith's Recognizable Patterns of Human Malformation

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

Overview

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.

Product Details

ISBN-13:	9780323638838
Publisher:	Elsevier Health Sciences
Publication date:	03/02/2021
Sold by:	Barnes & Noble
Format:	eBook
Pages:	1074
File size:	106 MB
Note:	This product may take a few minutes to download.

About the Author

Jones, Kenneth Lyons, MD (UCSD)

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

What People are Saying About This

From the Publisher

Provides over 1,450 photographs and illustrations to depict each malformation

Editorial Reviews

Reviewer: Luis F Escobar, MD, MS (Peyton Manning Children's Hospital)
Description: This sixth edition of a classic textbook of dysmorphology, originally written by Dr. David Smith, is a compilation of the most frequently seen clinical disorders by dysmorphologists. This has been developed as a dysmorphologic atlas with excellent clinical illustrations of each condition. The well thought out summaries provide concise information that complements the figures. Dr. Jones has outdone previous editions, presenting us with the best edition of this book so far. This is a must have tool for dysmorphologists and other care providers dealing with birth defects.
Purpose: The book defines dysmorphology as a unique discipline. It provides the required tools for the dysmorphologic approach to birth defects. The description of every condition, along with the wonderful illustrations, provides the clinical basis to understand the mechanisms of dysmorphogenesis. Dr. Jones has met his goals in reviewing the vast amount of information concerning the recognizable patterns of human malformations. The information is limited to well established and recognized conditions in clinical genetics and dysmorphology.
Audience: The audience includes a wide variety of care providers, from neonatologists who deal with birth defects to psychologists who identify unusual phenotypes in their patients. However, Smith's has traditionally been a tool of the clinical dysmorphologist. It is an easy to use reference in newborn nurseries, outreach genetic clinics, and diagnostic clinics. Dr. Jones is a recognized dysmorphologist at the international level with an excellent perspective on the importance of understanding human dysmorphogenesis to proceed with diagnostics of genetic syndromes.
Features: By definition, patterns of human malformations that consistently repeat among individuals are recognized as genetic syndromes. Smith's is a compilation of phenotypic descriptions of well recognized and established genetic syndromes. It prepares the reader for the atlas type of review with an initial chapter on the basic dysmorphology approach and classification of dysmorphogenesis. The section on physical findings by systems at the end of the book is essential for the correlation of clinical findings with specific syndromic conditions. The general alphabetical index, which was absent in early editions, is extremely helpful. The chapter on morphogenesis and dysmorphogenesis provides a great correlation between clinical knowledge and developmental biology.
Assessment: This is a high quality textbook, with excellent figures and art work. The conversion of the photographic material to color illustrations in this edition makes a significant difference in the presentation. This is an essential textbook in the field of clinical genetics and dysmorphology. Very few books have accomplished what is presented in this unique guide for clinical geneticists and dysmorphologists.

Doody's Review Service

“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.”

From the Publisher