Table 1.

Features of the Syndrome in Family 1

Category	Features
Growth	postnatal growth failure
Development	global, severe delays
Facial	wrinkled foreheads; prominence of eyes, down-sloping palpebral fissures, thickened lids; large ears; flared nares, hypoplastic alae, short columella; protruding upper lip; microretrognathia
Skeletal	delayed closure of fontanels; broad great toes
Integument	redundancy/laxity of skin, minimal subcutaneous fat, cutaneous capillary malformations, very fine hair and eyebrows
Cardiaca	structural anomalies (ventricular septal defect, atrial level defect, pulmonary artery stenoses), arrhythmias (Torsade de points, PVCs, PACs, SVtach, Vtach), death usually associated with cardiogenic shock preceded by arrhythmia.
Genitala	inguinal hernia, hypo- or cryptorchidism
Neurologica	hypotonia progressing to hypertonia, cerebral atrophy neurogenic scoliosis

^aFeatures of the syndrome demonstrating more variability. Though variable findings of the cardiac, genital and neurologic systems were observed, all affected individuals manifested some pathologic finding of each.