Smith's Recognizable Patterns of Human Malformation

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

Overview

Includes chart of embryonic and fetal development.

Product Details

ISBN-13:	9780323638821
Publisher:	Elsevier Health Sciences
Publication date:	06/04/2021
Edition description:	8th ed.
Pages:	1088
Product dimensions:	7.25(w) x 10.25(h) x (d)

About the Author

Jones, Kenneth Lyons, MD (UCSD)

Table of Contents

Recognizable Patterns of Malformation: Chromosomal Abnormality Syndromes. Very Small Stature, Not Skeletal Dysplasia. Moderate Short Stature, Facial, +/- Genital. Senile-Like Appearance. Early Overgrowth with Associated Defects. Unusual Brain And/Or Neuromuscular Findings with Associated Defects. Facial Defects as Major Feature. Limb Defects as Major Feature. Osteochondrodysplasias. Osteochondrodysplasias with Osteopetrosis. Craniosynostosis Syndromes. Other Skeletal Dysplasias. Storage Disorders. Connective Tissue Disorders. Hamartoses. Ectodermal Dysplasias. Environmental Agents. Miscellaneous Syndromes. Miscellaneous Sequences. Spectra of Defects. Miscellaneous Associations. Alphabetical Listing of Syndromes. Approaches to Categorical Problems of Growth Deficiency, Mental Deficiency, Arthrogryposis, Ambiguous External Genitalia. Morphogenesis and Dysmorphogenesis. Genetics, Genetic Counselling and Prevention. Minor Anomalies as Clues to More Serious Problems and Toward the Recognition of Malformation Syndromes. Normal Standards. Pattern of Malformation Differential Diagnosis By Anomalies.

What People are Saying About This

From the Publisher

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

Editorial 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.”

From the Publisher

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.

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