Description: The fourth edition of this dense, exhaustively referenced book on syndromes of the head and neck has expanded as a result of the explosion in medical genetics.
Purpose: At well over 1,000 pages, this is a standard reference textbook. This edition builds upon the mountain of knowledge in the previous edition, published in 1990. It succeeds as a comprehensive, single volume source for current information on clinical syndromes that feature craniofacial anomalies.
Audience: The book is designed to function as a reference for anyone who participates in the care of patients with syndromes of the head and neck. These patients are particularly complex and demand a multidisciplinary approach. As such, this edition is as valuable to the plastic surgeon approaching a child with a cleft palate as it is for the genetic counselor.
Features: All known syndromes that are characterized by craniofacial dysmorphism are included. The scope of knowledge is impressive; there are 350 discrete syndromes which feature some form of orofacial clefting. A particular strength are the hundreds of clinical photographs which cement the lengthy, technical descriptions of various phenotypes. There is a very practical appendix which includes not only measurements of use in evaluating the face and cranium, but also a list of websites and computerized database systems for practitioners seeking advice or more information.
Assessment: It is difficult to find fault with this book. Previous editions provided the phenotypic spectrum, epidemiology, mode of inheritance, and pathogenesis of many hundreds of syndromes. A decade of intensive research into the human genome has revealed the molecular basis for many anomalies, and these insights are featured prominently throughout. Herein lies its strength and principal weakness. The correlation between genotype and phenotype is still lacking for many disorders, but the knowledge gap is closing rapidly. Although the pace of new discoveries in molecular biology renders any static text incomplete even before the ink dries, this book will certainly remain an authoritative source for years to come.