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.

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