title: 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.
authors.affiliation: Department of Pediatric Neurology, Faculty of Medicine, Yakutiye Research Hospital, Atatürk University, 25240 Erzurum, Turkey. huseyin_tan@hotmail.com
authors.forename: Hüseyin
authors.initials: H
authors.lastname: Tan
authors.forename: Naci
authors.initials: N
authors.lastname: Ceviz
authors.forename: Orhan
authors.initials: O
authors.lastname: Baykal
authors.forename: Mustafa
authors.initials: M
authors.lastname: Büyükavci
authors.forename: Necmettin
authors.initials: N
authors.lastname: Bilici
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000473:pathology*; D005260:Female; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D019339:Port-Wine Stain / Q000473:pathology*; D018633:Pulmonary Atresia / Q000473:pathology*; D013577:Syndrome