Malformations of the head and face: prominent
frontal bossing, anotia or microtia, low-set ears, telecanthus,
microphthalmia, depressed nasal bridge, micrognathia, and cleft palate.
Central nervous system malformations: Dandy-Walker with associated
aqueductal stenosis and hydrocephalus, cerebellar vermis hypogenesis or
agenesis, and mental retardation. Cardiovascular malformations:
double-outlet right ventricle, ventricular septal defect, tetralogy of
Fallot, patent ductus arteriosus, persistent left superior vena cava, aortic
coarctation (often preductal), and occasionally lymphoid system hypoplasia
(thymic aplasia with ectopic focus, generalized lymphopenia).