Midfacial hypoplasia and linear erythematous skin
lesions, narrow and deformed ears, unilateral or bilateral microphthalmia,
anterior chamber anomalies (corneal opacity, sclerocornea, orbital cysts,
unplanted palpebral fissures and chorioretinal abnormalities). Focal dermal
hypoplasia or aplasia affecting usually the face, scalp, and neck. Looks
like linear burns or cuts at birth but heals without scar, or the skin can
remain pigmented and depressed at those places. Mild short stature.
Diaphragmatic hernia and rare occurrence of cardiac defects (atrial septal
defect, ventricular septal defect, one
case of cardiomyopathy, conduction defect, supraventricular tachycardia, and
ventricular fibrillation). In one case, the autopsy showed persistent
gross trabeculation of the left ventricle and an arteria lusoria. Hydrocephalus, agenesis of corpus
callosum, seizures, absence of septum pellucidum, and ectopic gray and white matter.