The facial phenotype of the velo-cardio-facial syndrome.
Velo-cardio-facial syndrome (VCFS) is a genetic disorder that is common but often variable in its expression. Several key organ systems are most often affected, including the craniofacial skeleton and soft tissues. Identification of the associated facial features will aid in the improved detection of patients. This review aims to highlight the approaches to facial analysis that are essential to the detection of the facial dysmorphisms in velo-cardio-facial syndrome, many of which may be subtle.
Butts
Sydney C
SC
Department of Otolaryngology and Communication Sciences, SUNY Upstate Medical University, 750 East Adams Street, Syracuse, NY 13210, USA. sydbutts@yahoo.com
D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000473:pathology*; D005145:Face / Q000473:pathology*; D006801:Humans; D010641:Phenotype