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

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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.

Original languageEnglish
Pages (from-to)203-206
Number of pages4
JournalClinical Dysmorphology
Volume15
Issue number4
DOIs
Publication statusPublished - Oct 2006

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Keywords

  • Atrial septal defect
  • Autosomal dominant inheritance
  • Axenfeld-Rieger anomaly
  • Congenital heart defect

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health
  • Anatomy

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