Medicine and Health Sciences Commons^™

Velo-Cardio-Facial Syndrome, Robert J. Shprintzen, Anne Marie Higgins, Kevin M. Antshel, Wanda Fremont, Nancy Roizen, Wendy R. Kates

Communication Disorders Faculty Publications

Purpose of review: Velo-cardio-facial syndrome has emerged from obscurity to become one of the most researched disorders this past decade. It is one of the most common genetic syndromes in humans, the most common contiguous gene syndrome in humans, the most common syndrome of cleft palate, and the most common syndrome of conotruncal heart malformations. Velo-cardio-facial syndrome has an expansive phenotype, a factor reflected in the wide range of studies that cover both clinical features and molecular genetics. In this review, we cover multiple areas of research during the past year, including psychiatric disorders, neuroimaging, and the delineation of clinical …