Seventy percent of patients have only one
extracutaneous manifestation of the syndrome. Hemangioma: facial, usually unilateral,
with a “plaque” morphology, most commonly involving the V1 trigeminal
dermatome. Extracutaneous hemangiomas: occur in 22% of patients; the subglottic area is then the
most common location. Brain and cerebrovascular abnormalities: Dandy-Walker malformation occurs in 33% of
patients; hypoplasia or agenesis of cerebellum or cerebellar vermis.
Aneurysmal dilatations and anomalous branches of the carotid artery occur in
50% of patients; arteriovenous or angiomatous malformations of the
cerebral vessels. Neurologic sequelae (seizures, developmental delay,
cerebral infarction, hemiparesis) are frequent if those anomalies are
present. Cardiac and/or aortic abnormalities: occur in more than 33% of patients; coarctation of the aorta is
the most frequent; patent ductus arteriosus, atrial septal defect,
ventricular septal defect. Aberrant origin of subclavian artery,
malformations of the aortic arch. Ophthalmic abnormalities: These are ipsilateral to the facial
hemangioma; increased retinal vascularity, Horner syndrome, microphthalmia,
cataracts.