Concordant familial segregation of atrial septal defect and Axenfeld-Rieger anomaly in father and son.

Abstract excerpt

The association of congenital heart defect and ocular malformations is involved in several genetic syndromes, metabolic diseases and environmental entities. We report here on father and son, both presenting with the combination of atrial septal defect and congenital ocular anomalies in Axenfeld-Rieger anomaly. The son had anterior iridotrabecular dysgenesis and posterior embryotoxon bilaterally, corneal leucoma...

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