Findings may involve the head and neck
(scaphocephaly, high forehead, blepharophimosis, flattened nose and
philtrum, small mouth and nostrils, micrognathia and/or retrognathia, narrow
arched palate, cleft palate, thin lips, long and low-set ears, short neck),
the heart (hypoplastic left heart syndrome, atrial septal defects,
ventricular septal defects, coarctation of the aorta, patent ductus
arteriosus, mitral valve prolapse), the central nervous system (mental
retardation, cerebral atrophy, enlarged cisterna magna), the genitalia
(hypospadias, micropenis, hypoplastic scrotum, cryptorchidism), and the
limbs (oligodactyly, cleft hand, syndactyly of toes). Other features may
include oligohydramnios and intrauterine growth retardation. Death in the
first weeks of life occurred in more than half of patients and was caused by
cardiac anomalies.