Smith's Recognizable Patterns of Human Malformation: Genetic, Embryologic and Clinical Aspects (Major Problems in Pathology)

The Fifth Edition of Smith's Recognizable Patterns of Human Malformation continues to be a user-friendly reference that is designed to be taken to the bedside or wherever children and/or adults with problems relating to malformation are seen. It provides concise but complete information on a large number of common and rare disorders which cause human malformation. In one or two pages the author outlines the salient features of the condition with information on natural history, etiology, and pathogenesis. Textual material is accompanied by illustrations and a brief list of references which typically include the initial description, a comprehensive review, and pertinent molecular studies. The work is designed to allow a practitioner easy access to informationthat is otherwise not readily available.
Reviews of the 4th Edition:
"The most widely used pediatric reference for identifying malformation syndromes."
--Dysmorphology and Clinical Genetics

"The book is succintly written, and its standard format is easy to use. All illustrations, including the radiographic reproductions, are of excellent quality...The best reference text on human malformation currently available."
--American Journal of Roentgenology

Thirty-two new disorders added to this edition.

Pathogenesis and etiology are included on every disorder as well as a discussion regarding the availability of laboratory testing.

A strength of previous editions has been the abundance of superb photographs which illustrate conditions being discussed.

In Chapter 4 reproductive counselling, prenatal diagnosis, and new genetic mechanisms which impact morphogenesis are discussed.

Simplifies physical diagnosis with a practical appendix on Pattern of Malformation Differential Diagnosis by Anomalies.

Features a brief list of updated references--which include useful review articles and current molecular information--for each condition.

Kenneth Lyons Jones, MD, Professor of Pediatrics; Chief, Division of Dysmorphology and Teratology, University of California, San Diego, School of Medicine, La Jolla, CA