A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.
This report describes a pattern of similarities among 12 patients which are felt to represent a newly recognized congenital malformation syndrome. The symptoms shown most consistently by the 12 patients were overt or submuscous clefts of the secondary palate, ventricular septal defects, typical facies, and learning disabilities. Other symptoms were noted with varying frequency. The occurrence of velopharyngeal insufficiency in all twelve patients reflected poor motion in the lateral pharyngeal walls, thus necessitating specific forms of treatment. Treatment was often dependent on the extent of cardiac lesions.
D000015:Abnormalities, Multiple; D002648:Child; D002675:Child, Preschool; D002972:Cleft Palate; D005145:Face; D005260:Female; D006343:Heart Septal Defects; D006801:Humans; D007231:Infant, Newborn; D007859:Learning Disabilities / Q000235:genetics; D008297:Male; D013577:Syndrome; D014681:Velopharyngeal Insufficiency / Q000151:congenital; D014831:Voice