{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T14:10:49Z","timestamp":1784815849134,"version":"3.55.0"},"reference-count":12,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T00:00:00Z","timestamp":1784592000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound"],"abstract":"<jats:sec>\n                    <jats:title>Introduction:<\/jats:title>\n                    <jats:p>Arterial tortuosity syndrome is a rare connective tissue disorder characterised by a distinct combination of cardiovascular manifestations, which include the tortuosity and elongation of large- and medium-sized arteries. In addition, the condition is associated with various connective tissue abnormalities, including facial dysmorphism, skin laxity, hernias, premature ageing, chest wall and spine deformities, and hypermobile joints. Arterial tortuosity syndrome is attributed to mutations in the SLC2A10 gene, which plays a critical role in extracellular matrix synthesis, an essential component that maintains the structural integrity of vascular and connective tissues.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case report:<\/jats:title>\n                    <jats:p>We present a case of a 21-year-old lady at 40\u2009+\u20095\u2009weeks of gestation, whose fetus on antenatal sonography showed an extremely tortuous and dilated aorta, and dilated main pulmonary artery and its main branches. The fetal neurosonogram showed prominence and septations in both the lateral cerebral ventricles and a diagnosis of arterial tortuosity syndrome with intraventricular septae secondary to hemorrhage was suspected. At birth, the female neonate exhibited abnormal facial features, lax skin, structural talipes, and hypermobility of joints. The antenatal diagnosis of arterial tortuosity syndrome was confirmed by typical postnatal physical characteristics and computed tomography angiography, which showed the extent of vascular involvement. However, genetic analysis could not be done to further support the diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>A comprehensive understanding of the typical imaging features, physical characteristics, and genetic factors associated with arterial tortuosity syndrome can enhance understanding of the broader implications of this pathology across vascular and other connective tissue biology. Such an understanding may lead to improvements in the diagnosis and management of the condition.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/1742271x261468851","type":"journal-article","created":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T09:43:54Z","timestamp":1784627034000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Arterial tortuosity syndrome \u2013Bends and turns of life diagnosed antenatally: A case report"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-9270-6719","authenticated-orcid":false,"given":"Shruti","family":"Thakur","sequence":"first","affiliation":[{"name":"Department of Radiodiagnosis, Indira Gandhi Medical College and Hospital (IGMC), Shimla, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashok","family":"Garg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Indira Gandhi Medical College and Hospital (IGMC), Shimla, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mansi","family":"Verma","sequence":"additional","affiliation":[{"name":"Department of Radiodiagnosis, Indira Gandhi Medical College and Hospital (IGMC), Shimla, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumala","family":"Kapila","sequence":"additional","affiliation":[{"name":"Department of Radiodiagnosis, Indira Gandhi Medical College and Hospital (IGMC), Shimla, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikhil","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Radiodiagnosis, Indira Gandhi Medical College and Hospital (IGMC), Shimla, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,7,21]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.253"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.case.2024.09.009"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.4103\/ijves.ijves_86_19"},{"issue":"12","key":"e_1_3_3_5_2","article-title":"Arterial tortuosity syndrome in a newborn: a case report with literature review","volume":"14","author":"Al-Blushi S","year":"2022","unstructured":"Al-Blushi S, Bantan NA, Al-Abdullatif S, et al. Arterial tortuosity syndrome in a newborn: a case report with literature review. Cureus 2022; 14(12): e32899.","journal-title":"Cureus"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-021-02458-4"},{"issue":"9","key":"e_1_3_3_7_2","article-title":"Arterial tortuosity syndrome: unraveling a rare vascular disorder","volume":"15","author":"Ekhator C","year":"2023","unstructured":"Ekhator C, Devi M, Barker C, et al. Arterial tortuosity syndrome: unraveling a rare vascular disorder. Cureus 2023; 15(9): e44906.","journal-title":"Cureus"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.3390\/jfmk1020249"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.814773"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.22468\/cvia.2020.00129"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.4103\/2156-7514.139734"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/uog.6153"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12884-021-03960-w"}],"container-title":["Ultrasound"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1742271X261468851","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1742271X261468851","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1742271X261468851","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T13:53:32Z","timestamp":1784814812000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1742271X261468851"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,21]]},"references-count":12,"alternative-id":["10.1177\/1742271X261468851"],"URL":"https:\/\/doi.org\/10.1177\/1742271x261468851","relation":{},"ISSN":["1742-271X","1743-1344"],"issn-type":[{"value":"1742-271X","type":"print"},{"value":"1743-1344","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,21]]},"article-number":"1742271X261468851"}}