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September 1997

The Child With Multiple Birth Defects

Author Affiliations

Department of Pathology University of South Florida Tampa General Hospital Tampa, FL 33601-1239

Arch Pediatr Adolesc Med. 1997;151(9):966. doi:10.1001/archpedi.1997.02170460104033

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Few diagnosticians have the clinical acumen of M. Michael Cohen, Jr, DMD, PhD, who has made many seminal contributions to syndromology and dysmorphology. In this volume, he gives the reader a unique approach to the understanding and diagnosis of the child with multiple congenital anomalies. The first 3 chapters consist of definitions and vocabulary for syndromes, associations, sequences, malformations, deformations, disruptions, and minor anomalies. This is followed by information about facial dysmorphology and a guide to physical measurements. A chapter on genetics covers the state of the art on cytogenetics, contiguous gene syndromes, gene mapping, genetic heterogeneity, mosaicism, uniparental disomy, imprinting, and mitochondrial inheritance. Other chapters include teratogens, syndrome classification and delineation, heterogeneity, syndrome diagnosis, and dysmorphic growth and development. In the last 2 chapters, mental deficiency is briefly summarized by categories and psychosocial considerations; these chapters include a table with references for the behavioral characteristics of some dysmorphic syndromes.

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