Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder. It is described as the association of malformation of the anterior chamber of the eye with extraocular anomalies. Cardiovascular defects are considered an occasional findings with this syndrome. We present a patient having the features of Axenfeld-Rieger syndrome with pseudotruncus arteriosus as a different cardiac association.
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- - Axenfeld-Rieger syndrome (ARS) is a genetic disorder with eye and systemic symptoms, showing variability among patients; this study presents two cases (a boy and his mother) with a new genetic variant linked to ARS.
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