PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities

Abstract

Large facial hemangiomas may have a distinctive group of associated arterial, central nervous system, and ophthalmologic anomalies. We propose the acronym PHACE syndrome to emphasize the characteristic findings of this neurocutaneous syndrome: posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities.