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

Guerbuez-Koez O., ATALAY H. T., Koez C., ILGIN RUHİ H., Yaranguemeli A., Kural G.

TURKISH JOURNAL OF PEDIATRICS, vol.49, no.4, pp.444-447, 2007 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 49 Issue: 4
  • Publication Date: 2007
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.444-447
  • Keywords: Axenfeld-Rieger syndrome, truncus arteriosus, SENSORINEURAL HEARING-LOSS, TRANSCRIPTION FACTOR GENE, ATRIAL SEPTAL-DEFECT, MALFORMATIONS, TRANSLOCATION, DISORDERS, DISEASE
  • Ankara University Affiliated: Yes

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.