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

• Published in: American journal of medical genetics. Part A Vol. 122A; no. 3; pp. 266 - 268
• Main Authors: Tan, Hüseyin, Cevi̇z, Naci, Baykal, Orhan, Büyükavcı, Mustafa, Bilici, Necmettin
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 15-10-2003
• Subjects: Abnormalities, Multiple - pathology; Adolescent; congenital heart disease; Diagnosis, Differential; Eye Abnormalities - pathology; Female; Heart Defects, Congenital - pathology; Humans; PHACE syndrome; Port-Wine Stain - pathology; Pulmonary Atresia - pathology; Sturge–Weber syndrome; Syndrome
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.20250

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. © 2003 Wiley‐Liss, Inc.