Description: This is a comprehensive presentation of major human malformations with precise definitions, good descriptions, and extensive discussion of etiology, occurrence, associated anomalies, and management strategies by multiple contributors.
Purpose: The authors' stated intention is to consider human malformations from a clinical perspective and to examine their development and underlying pathology and related anomalies and syndromes to advance the understanding of birth defects and to better assist the clinician in the care of patients and their families. The book meets these objectives.
Audience: This book is written primarily for practitioners and students of clinical genetics, but it is useful for all who seek a better understanding of the etiology and significance of individual malformations. The authors and contributors are acknowledged experts, and their discussions are lucid and illuminating.
Features: The contributors' make ample and helpful use of good quality black-and-white photographs, reproductions of radiographic, MR and ultrasonographic images, line drawings, flow charts, and tables. The numerous tables of syndromes associated with major anomalies are encyclopedic. References are profuse, pertinent, and survey relevant literature through 1990. The book is well organized, with major malformations grouped by organ system. The table of contents and indexes are helpful.
Assessment: The book makes a valuable contribution to the delineation and understanding of birth defects. This book is not a clinical atlas of syndromes. It is a compendium of single malformations in which each is considered in a common format that includes definition, diagnosis, etiology and distribution, prognosis, treatment, and prevention. It should be on the bookshelves of practitioners of clinical genetics and in the reference section of all medical libraries.