Human Malformations and Related Anomalies

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.

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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. Where 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, the editors and contributors have managed to update the book while reducing it to a single volume.