This article is only available in the PDF format. Download the PDF to view the article, as well as its associated figures and tables.
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.
Gilbert-Barness E. The Child With Multiple Birth Defects. Arch Pediatr Adolesc Med. 1997;151(9):966. doi:10.1001/archpedi.1997.02170460104033
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: