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Recognizable Patterns of Human Malformation: Genetic, Embryologic, and Clinical Aspects

Am J Dis Child. 1970;120(2):173. doi:10.1001/archpedi.1970.02100070117032.
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A malformation explosion is upon us. We are being inundated by a flood of new syndromes, appearing in more journals than we can possibly keep up with. Books are necessary to provide some order and perspective. The initial objective, to catalogue and describe syndromes, has been admirably accomplished in the volumes of McKusick, Gorlin and Pindborg, and Gellis and Feingold. Now David Smith adds some new dimensions: taxonomy, morphogenesis, embryology, genetics, and genetic counseling, all neatly packaged into 368 pages.

In this book a section on "single syndromic malformations" is followed by a description of 135 "dysmorphic syndromes of multiple primary defects." Next comes a listing of individual anomalies. They are cross-indexed to serve as a convenient diagnostic key for the listed dysmorphic syndromes. A chapter on morphogenesis relates malformations to embryology and developmental timing. A section on genetics and genetic counseling combines theoretical background with practical advice. An appendix


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