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, cilt.49, sa.4, ss.444-447, 2007 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 49 Sayı: 4
  • Basım Tarihi: 2007
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.444-447
  • Anahtar Kelimeler: Axenfeld-Rieger syndrome, truncus arteriosus, SENSORINEURAL HEARING-LOSS, TRANSCRIPTION FACTOR GENE, ATRIAL SEPTAL-DEFECT, MALFORMATIONS, TRANSLOCATION, DISORDERS, DISEASE
  • Ankara Üniversitesi Adresli: Evet

Özet

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.