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J Pediatr Genet. 2019 Mar;8(1):20-23. doi: 10.1055/s-0038-1669385. Epub 2018 Aug 22.

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

Author information

1
Department of Pediatrics, Çukurova Üniversity, Balcali Hospital, Adana, Turkey.
2
AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Cukurova University, Adana, Turkey.
3
Medical Genetics Department of Balcali Clinics and Hospital, Cukurova University Faculty of Medicine, Adana, Turkey.
4
Department of Otorhinolaryngology, Çukurova Üniversity, Balcali Hospital, Adana, Turkey.
5
Department of Pathology, Çukurova Üniversity, Balcali Hospital, Adana, Turkey.

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.

KEYWORDS:

angiodysplasia; duplication of chromosome 2; molecular karyotyping; vascular ectasia

PMID:
30775049
PMCID:
PMC6375715
[Available on 2020-03-01]
DOI:
10.1055/s-0038-1669385

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