Literature DB >> 18246752

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

Ozlem Gürbüz-Köz1, Tuba Atalay, Cem Köz, Hatice Ilgin-Ruhi, Alper Yarangümeli, Gülcan Kural.   

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.

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Year:  2007        PMID: 18246752

Source DB:  PubMed          Journal:  Turk J Pediatr        ISSN: 0041-4301            Impact factor:   0.552


  4 in total

Review 1.  Current Perspectives in Cardiac Laterality.

Authors:  Marina Campione; Diego Franco
Journal:  J Cardiovasc Dev Dis       Date:  2016-12-09

2.  The Axenfeld-Rieger Syndrome Gene FOXC1 Contributes to Left-Right Patterning.

Authors:  Paul W Chrystal; Curtis R French; Francesca Jean; Serhiy Havrylov; Suey van Baarle; Ann-Marie Peturson; Pengfei Xu; J Gage Crump; David B Pilgrim; Ordan J Lehmann; Andrew J Waskiewicz
Journal:  Genes (Basel)       Date:  2021-01-26       Impact factor: 4.096

3.  Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants.

Authors:  Mallika Prem Senthil; Lachlan S W Knight; Deepa Taranath; David A Mackey; Jonathan B Ruddle; Mark Y Chiang; Owen M Siggs; Emmanuelle Souzeau; Jamie E Craig
Journal:  Cornea       Date:  2022-03-30       Impact factor: 3.152

4.  Case report: Congenital mitral and tricuspid valve insufficiency in a patient with Axenfeld-Rieger syndrome.

Authors:  Jingwei Feng; Yingjiao Wang; Shiyu Cheng; Zishuo Liu; Ling Lan; Qi Miao; Chaoji Zhang
Journal:  Front Cardiovasc Med       Date:  2022-09-23
  4 in total

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