Judith G. Hall is a 2011 Fellow of The Royal Society of Canada.

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.

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Roger E. Stevenson is at Director. Judith G. Hall is at University of British Columbia.

"Dr. Stevenson and Hall have accomplished a great objective. They have been able to compile in an easy to read manner a body of information that links individual anomalies to malformation syndromes...this is a must have textbook. This is one of the highest quality works in the genetics market at this time."--Doody's

Reviews from the first edition: "I am pleased to say that...'field trials' have confirmed without doubt the excellence of this huge and scholarly work. It will be a key reference text for students, researchers, biomedical scientists, and clinicians, particularly clinical geneticists, paediatricians, and obstetricians. Extensive and up to date references are given and the vast number of illustrations and line diagrams are excellent....The editors are to be congratulated on their concept and design of these volumes....I really don't have any criticisms....I would strongly recommend that this book is used as a 'bench book' and is located in all clinical genetics departments; the hospital or university library should also contain a reference copy." --Dian Donnai, Journal of Medical Genetics

Reviews from the first edition: "Provides an excellent, up-to-date summary that is an important resource for any clinical geneticist....The chapters are well-illustrated and include lists of associated syndromes that can be used to narrow down a diagnosis for a patient, or provide a broad review that is useful for medical rounds. This set is well worth the investment." --Rhiannon Hughes-Benzie MD, FRCPC, Annals RCPSC