| Main clinical features
|
facial dysmorphy with hypertelorism, downslanting palpebral fissures, ptosis, low-set/posteriorly rotated ears with evident antitragus and earlobes with central depression, long philtrum with evident columns, marked upper lip vermilion and everted lower lip, and short/webbed neck
also dental anomalies, skin features (multiple lentigines, cafè au lait spots)
congenital heart defects, consisting of atrial septal defects and mitral valve insufficiency, hypotonia and EEG anomalies |