[Skip to Navigation]
Citations 0
Book Reviews
February 1998

Smith's Recognizable Patterns of Human Malformation

Author Affiliations


Arch Pediatr Adolesc Med. 1998;152(2):212. doi:10.1001/archpedi.152.2.212

This volume is an invaluable reference for all those engaged in the areas of genetics, dysmorphology, pediatrics, and internal medicine.

Dr Jones should be congratulated for perpetuating this great book initiated by one of the outstanding clinical geneticists, David Smith, MD, who may be considered the father of dysmorphology.

The fifth edition of this book has been expanded, with updated references and superb illustrations. Chapter 1 includes information about the following topics: chromosomal abnormalities, small stature, senile and overgrowth syndromes, brain and neuromuscular abnormality syndromes, facial and limb defects, camptomelic syndrome, craniosynostosis, storage disorders, connective tissue and hamartomatous syndromes, ectodermal dysplasias, syndromes due to environmental agents, miscellaneous syndromes, and sequences and associations. An alphabetical listing of syndromes is also included in this chapter. Chapter 2 contains approaches to the categorical problems of growth deficiency, mental deficiency, arthrogryposis, and ambiguous external genitalia. Chapter 3 provides information about morphogenesis and dysmorphogenesis. Chapter 4 addresses the topics of genetics, genetic counseling, and prevention. Chapter 5 stresses that minor anomalies can be clues to more serious problems; they can lead to the recognition of malformation syndromes. Chapter 6 contains information about normal standards. Finally, a 74-page appendix is devoted to patterns of malformations and the differential diagnosis of anomalies.