Pulmonary atresia/ventricular septal defect associated with facial port-wine stain and retinal vascular abnormality: a new constellation?

Abstract

A case with pulmonary atresia/ventricular septal defect associated with port-wine stain and retinal vascular abnormality is reported. Clinical findings were similar to both PHACE syndrome and Sturge-Weber syndrome (SWS). But, the most frequent and well-known features of both syndromes were absent. So, it could not be concluded whether this is a new constellation or an incomplete form of one of the two syndromes. In both situations, presence of a complex congenital heart disease that has not been reported previously makes this case original.