{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,1,10]],"date-time":"2025-01-10T13:42:09Z","timestamp":1736516529019,"version":"3.32.0"},"reference-count":10,"publisher":"Elsevier BV","issue":"04","license":[{"start":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T00:00:00Z","timestamp":1696896000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Glob Med Genet"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive disorder that affects the connective tissue. The incidence of ATS is not well known and to date only 106 patients have been described in the literature. ATS affects medium and large size arteries, leading to widespread elongation and intensification of the average vessel tortuousness, responsible of several loops and kinks. Like other connective tissue disorders, ATS can present with joint laxity, hernias, pectus excavatum, scoliosis or other musculoskeletal abnormalities, and ocular defects. Due to the extreme variability of clinical symptoms and the fact that ATS has no curative management, prompt diagnosis is of tremendous importance to prevent disease-associated complications. In this situation, imaging techniques have a central role. In this study, we describe a rare case of a male newborn with tortuosity and lengthening of the main arterial and venous medium and large caliber branches with associated aortic coarctation who passed away prematurely. The finding of aortic coarctation in a newborn with ATS has rarely been described in the literature.<\/jats:p>","DOI":"10.1055\/s-0043-1775980","type":"journal-article","created":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T22:50:50Z","timestamp":1696978250000},"page":"271-277","source":"Crossref","is-referenced-by-count":0,"title":["Imaging in a Rare Case of Neonatal Arterial Tortuosity Syndrome"],"prefix":"10.1016","volume":"10","author":[{"given":"Maria Cristina","family":"Inserra","sequence":"additional","affiliation":[{"name":"CAST Radiology Department, A.U.O. Policlinico \u201cG.Rodolico-San Marco,\u201d Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessia","family":"Di Mari","sequence":"additional","affiliation":[{"name":"Department of Medical Surgical Sciences and Advanced Technologies \u201cGF Ingrassia,\u201d University Hospital Policlinico \u201cG. Rodolico-San Marco,\u201d Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Passaniti","sequence":"additional","affiliation":[{"name":"CAST Division of Cardiology, A.O.U. Policlinico \u201cG. Rodolico - San Marco,\u201d Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Teresa","family":"Cannizzaro","sequence":"additional","affiliation":[{"name":"CAST Radiology Department, A.U.O. Policlinico \u201cG.Rodolico-San Marco,\u201d Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuliana","family":"La Rosa","sequence":"additional","affiliation":[{"name":"Department of Medical Surgical Sciences and Advanced Technologies \u201cGF Ingrassia,\u201d University Hospital Policlinico \u201cG. Rodolico-San Marco,\u201d Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Poli","sequence":"additional","affiliation":[{"name":"CCPM \u2013 Centro Cardiologico Pediatrico del Mediterraneo \u201cBambino Ges\u00f9\u201d di Taormina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Placido","family":"Gitto","sequence":"additional","affiliation":[{"name":"CCPM \u2013 Centro Cardiologico Pediatrico del Mediterraneo \u201cBambino Ges\u00f9\u201d di Taormina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Patan\u00e8","sequence":"additional","affiliation":[{"name":"CAST Division of Cardiology, A.O.U. Policlinico \u201cG. Rodolico - San Marco,\u201d Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Placido","family":"Romeo","sequence":"additional","affiliation":[{"name":"Radiology Department of AO \u201cSan Marco,\u201d A.U.O. 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