Human Malformations and Related Anomalies (Oxford Monographs on Medical Genetics, No. 52)

This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, and the revised edition fully incorporates the advances made in the field during the intervening years.. It reflects new understanding of human developmental biology that has emerged from molecular, cytogenetic, and biochemical studies; new observations by clinicians as well as enhanced diagnostic and prevention capacities; and more accurate and comprehensive epidemiology. By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. Stevenson and Hall and their contributors have managed to update the book while reducing its size to that of a single volume. All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information. New edition extensively revised to reflect the clinical and laboratory advances of the past decade. The central theme is to provide information on individual anomalies and to connect these anomalies to the malformation syndromes and associated problems, primarily through the use of differential diagnostic tables. Each anomaly is considered from the perspective of the clinician and in the context of current understanding of embryonic and fetal development. In many cases, it has been possible in this edition to describe more comprehensive and accurate epidemiology, details of the underlying molecular biology, new laboratory diagnostic technologies, and enhanced prevention strategies. The central theme of this text is to provide information on individual anomalies and to connect them to the malformation syndromes and associated problems, through the use of differential diagnostic tables. Each anomaly is considered from the perspective of the clinician and in the context of understanding of embryonic and fetal development. The central theme of this text is to provide information on individual anomalies & to connect these anomalies to the malformation syndromes & associated problems, primarily through the use of differential diagnostic tables