A Two-Month-Old Child with Vascular Ectasia: A Case Report Diagnosed by Molecular Karyotyping

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TOLU KENDİR Ö., YILMAZ H. L., Bozdogan S. T., BİŞGİN A., ÇELİK T., SÜRMELİOĞLU Ö., ...More

Journal of Pediatric Genetics, vol.8, no.01, pp.20-23, 2019 (ESCI) identifier identifier

  • Publication Type: Article / Case Report
  • Volume: 8 Issue: 01
  • Publication Date: 2019
  • Doi Number: 10.1055/s-0038-1669385
  • Journal Name: Journal of Pediatric Genetics
  • Journal Indexes: Emerging Sources Citation Index (ESCI)
  • Page Numbers: pp.20-23
  • Keywords: angiodysplasia, vascular ectasia, duplication of chromosome 2, molecular karyotyping, PARTIAL TRISOMY 2P, MONOSOMY, ECTASIA, DELETION
  • Akdeniz University Affiliated: Yes

Abstract

Gastrointestinal angiodysplasia can be encountered in cases with aortic stenosis, inflammatory gastrointestinal conditions, von Willebrand disease or vascular damage, and degenerative changes. Predisposing factors have been described in four adults with vascular ectasia located in the stomach, duodenum, and the distal esophagus. Here, we report a 2-month-old infant with vascular ectasia in the proximal esophagus and diagnosed by molecular karyotyping. This is the first case of vascular ectasia in the proximal esophagus in a pediatric patient.