title: Concordant familial segregation of atrial septal defect and Axenfeld-Rieger anomaly in father and son.
abstract: 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 and marked iridial vascularization at right. The father had bilateral anterior iridotrabecular dysgenesis, posterior embryotoxon and nystagmus, and corneal leucoma at left. No additional malformations were noted in these patients. The Axenfeld-Rieger syndrome seems to be a spectrum of developmental disorders. The present report confirms the existence of a specific Axenfeld-Rieger phenotype associated with congenital heart defect. Atrial septal defect is the anatomic type of congenital heart defect linked to this condition.
authors.affiliation: Pediatric Cardiology, Department of Pediatrics, University La Sapienza Medical Genetics, Bambino Gesù Hospital Experimental Medicine and Pathology, University La Sapienza and CSS-Mendel Institute, Rome, Italy.
authors.forename: Giulio
authors.initials: G
authors.lastname: Calcagni
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Digilio
authors.forename: Rossella
authors.initials: R
authors.lastname: Capolino
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Bruno
authors.initials: B
authors.lastname: Marino
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000150:complications / Q000235:genetics*; D006344:Heart Septal Defects, Atrial / Q000150:complications / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013577:Syndrome