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Pulmonary atresia/ventricular septal defect associated with facial port‐wine stain and retinal vascular abnormality: A new constellation?
Author(s) -
Tan Hüseyin,
Cevi̇z Naci,
Baykal Orhan,
Büyükavcı Mustafa,
Bilici Necmettin
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20250
Subject(s) - abnormality , medicine , pulmonary atresia , cardiology , retinal , stain , holoprosencephaly , pathology , heart disease , ophthalmology , fetus , pregnancy , staining , genetics , psychiatry , biology
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.