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Article

Arterial tortuosity syndrome: case report.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2012

Karakurt C, Koçak G, Elkiran O, Coucke P J, Van Maldergem L

Abstract excerpt

Arterial tortuosity syndrome (ATS; OMIM 208050) is a rare autosomal recessive condition characterized by dysmorphic features, elongation, tortuosity, and aneurysm of the large and middle sized arteries. We report on a 13-year-old boy who presented with a malformed ascending aorta mimicking coarctation of aorta and a cutis laxa-like facial dysmorphia. Based on angiogram, a diagnosis of ATS was made and...

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PMID: 23431747

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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