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 "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 Pathogenesis and etiology are included on every disorder as well as a discussion regarding the availability of laboratory testing. In Chapter 4 reproductive counselling, prenatal diagnosis, and new genetic mechanisms which impact morphogenesis are discussed. Features a brief list of updated references--which include useful review articles and current molecular information--for each condition.
This is a fascinating book for those interested in medicine, psychiatry, psychology, embryology, and genetics! It has medical photos along with descriptions of human deformities, including the usual and unusual symptoms, the typical life pattern, and the origin of the deformity.
While widely considered the ur-textbook for genetic syndromes presenting with dysmorphology, Smith is invaluable as a reference, but limited as a textbook.
This was indispensable for anyone working in medical genetics. Clear and concise with pictures and references. Now I imagine this information in readily available on line ... which may make it an even better resource.
I used this as a reference in the pediatrics office I did my clerkship in - it was excellent for comparing pictures of the malformations to patients with these syndromes.
Excellent reference source for clinical use - NOT FOR SHELF EXAM STUDIES OR BOARD EXAM PREPARATIONS.