JFMK, Vol. 1, Pages 249-253: A Newborn with Arterial Tortuosity Syndrome: The Importance of Timely Diagnostic Work-Up in Patients Presenting with Cutis Laxa

Arterial tortuosity syndrome (ATS) is a rare, autosomal recessively inherited connective tissue disorder characterized by severe and widespread arterial tortuosity of the aorta and of middle-sized arteries with an increased risk of aneurysm, dissection, and stenosis involving either the aorta or the pulmonary arteries or both. In this article, we report the clinical findings and molecular characterization of a newborn with ATS presenting with cutis laxa, respiratory distress, and dislocation of the nasogastric tube due to a gastric volvulus and an open pleuroperitoneal channel. Based on this case report, we emphasize early diagnostic work-up in all patients presenting with cutis laxa in order to prevent adverse cardiovascular events. Data suggests that early diagnosis is life-saving in these patients.

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