Axenfeld-Rieger syndrome associated with truncus arteriosus: a case report.

ABSTRACT

The aim of this presentation was to report a case with Axenfeld-Rieger syndrome (ARS) associated with truncus arteriosus (TA). We present a 14-year-old boy with ARS in whom the diagnosis was confirmed by ophthalmologic examination and developmental defects of the teeth and facial bones. Echocardiography revealed TA. With this case demonstrating the association between ARS and TA, the range of reported cardiac malformations is enlarged and the importance of cardiologic evaluation is emphasized in patients with ARS.