Smith's Recognizable Patterns of Human Malformation

The completely revised and updated New Edition of this definitive text—now in full color! Long known as the source to consult for guidance on diagnosis, prognosis, plan management, and genetic counseling, this easy-to-use reference focuses on the patterns of human defects caused by inborn errors in morphogenesis as opposed to defects caused by mechanical problems. It provides a wealth of information on normal and abnormal morphogenesis
• minor anomalies and their relevance
• clinical approaches to specific diagnoses
• and normal standards of measurement for the entire spectrum of disorders. Each chapter includes a description of the specific abnormality—including occasional associated abnormalities—natural history, etiology, and references. On opposing pages are several descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality.

• Provides over 1,450 photographs and illustrations to depict each malformation—many from the personal collections of Drs. Smith and Jones—to aid readers in diagnosis.
• Uses a consistent chapter format to help readers quickly and easily find information on any given disorder
• Offers the most current coverage available on existing disorders and their molecular basis, plus the very latest information on virtually any genetic or physiological malformation.

• Offers a clearer understanding of abnormalities through the use of more than 1,000 new full-color figures and photographs.
• Includes updates for every disorder, with extensive new information on the molecular basis of malformations as well as new clinical information for many disorders.
• Covers 16 additional commonly seen disorders, including Deletion 1p36 syndrome
• Deleletion 22q13 syndrome
• Meier-Gorlin Syndrome
• Short Syndrome
• 3-C Syndrome
• GAPO Syndrome
• Lenz Microphthalmia Syndrome
• Muenke Craniosynostosis
• Torriello-Carey Syndrome
• Mandibulo-Acral Syndrome
• Mowat-Wilson Syndrome
• Ulnar-Mammary Syndrome
• Kaufman-McKusick Syndrome
• Smith-Maginess Syndrome
• Wiedeman-Rautenstrauch Syndrome
• and Shprintzen-Golberg Syndrome.
• Presents a wealth of new Growth Charts, plus complete revisions to existing Growth Charts.

The book contains black-and-white illustrations.

This user-friendly 5th Edition provides concise but complete information on numerous common and rare disorders that cause human malformation. Includes an outline of the salient features of each condition, as well as material on natural history, etiology, and pathogenesis. The text is accompanied by helpful illustrations and reference lists. Organized to allow for easy access to essential information.

Doody Review Services

Reviewer:Luis F. Escobar, MD, MS(St. Vincent Hospital and Health Care Center)
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.

Jones, Kenneth Lyons, MD (UCSD)