{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T07:29:38Z","timestamp":1793690978006,"version":"4.5.1"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,12,24]]},"DOI":"10.7759\/cureus.32899","type":"journal-article","created":{"date-parts":[[2022,12,24]],"date-time":"2022-12-24T09:35:36Z","timestamp":1671874536000},"source":"Crossref","is-referenced-by-count":3,"title":["Arterial Tortuosity Syndrome in a Newborn: A Case Report With Literature Review"],"prefix":"10.7759","author":[{"given":"Sania","family":"Al-Blushi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Najwa Abdalkabeer A","family":"Bantan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saad","family":"Al-Abdullatif","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohiuddin M","family":"Taher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1161\/01.cir.36.3.400","article-title":"Diffuse tortuosity and lengthening of the arteries","volume":"36","author":"Ertugrul A","year":"1967","unstructured":"Ertugrul A. Diffuse tortuosity and lengthening of the arteries. Circulation. 1967, 36:400-7. 10.1161\/01.cir.36.3.400","journal-title":"Circulation"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.253","article-title":"Arterial tortuosity syndrome: 40 new families and literature review","volume":"20","author":"Beyens A","year":"2018","unstructured":"Beyens A, Albuisson J, Boel A, et al.. Arterial tortuosity syndrome: 40 new families and literature review. Genet Med. 2018, 20:1236-45. 10.1038\/gim.2017.253","journal-title":"Genet Med"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20623","article-title":"Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families","volume":"29","author":"Callewaert BL","year":"2008","unstructured":"Callewaert BL, Willaert A, Kerstjens-Frederikse WS, et al.. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. Hum Mutat. 2008, 29:150-8. 10.1002\/humu.20623","journal-title":"Hum Mutat"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1186\/s42269-022-00938-2","article-title":"Arterial tortuosity syndrome (variants in SLC2A10 gene) in two pediatric patients in the same city of Spain: a case report","volume":"46","author":"Palanca Arias D","year":"2022","unstructured":"Palanca Arias D, Ayerza Casas A, Clavero Adell M, et al.. Arterial tortuosity syndrome (variants in SLC2A10 gene) in two pediatric patients in the same city of Spain: a case report. Bull Natl Res Cent. 2022, 46:247. 10.1186\/s42269-022-00938-2","journal-title":"Bull Natl Res Cent"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.29","article-title":"Arterial tortuosity syndrome with multiple intracranial aneurysms: a case report","volume":"68","author":"Naunheim MR","year":"2011","unstructured":"Naunheim MR, Walcott BP, Nahed BV, MacRae CA, Levinson JR, Ogilvy CS. Arterial tortuosity syndrome with multiple intracranial aneurysms: a case report. Arch Neurol. 2011, 68:369-71. 10.1001\/archneurol.2011.29","journal-title":"Arch Neurol"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.rec.2019.10.010","article-title":"Arterial tortuosity syndrome: a late and unexpected diagnosis and description of a novel likely pathogenic mutation","volume":"73","author":"Rodr\u00edguez-Capit\u00e1n J","year":"2020","unstructured":"Rodr\u00edguez-Capit\u00e1n J, Mac\u00edas-Ben\u00edtez M, Conejo-Mu\u00f1oz L, Cordero-Aguilar A, L\u00f3pez-Salguero R, P\u00e9rez-Villard\u00f3n B. Arterial tortuosity syndrome: a late and unexpected diagnosis and description of a novel likely pathogenic mutation. Rev Esp Cardiol (Engl Ed). 2020, 73:504-6. 10.1016\/j.rec.2019.10.010","journal-title":"Rev Esp Cardiol (Engl Ed)"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35266","article-title":"Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene","volume":"158A","author":"Castori M","year":"2012","unstructured":"Castori M, Ritelli M, Zoppi N, et al.. Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G&gt;A mutation in the SLC2A10 gene. Am J Med Genet A. 2012, 158A:1164-9. 10.1002\/ajmg.a.35266","journal-title":"Am J Med Genet A"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1186\/s12884-021-03960-w","article-title":"Two fetuses in one family of arterial tortuosity syndrome: prenatal ultrasound diagnosis","volume":"21","author":"Liang M","year":"2021","unstructured":"Liang M, Wen H, Li S. Two fetuses in one family of arterial tortuosity syndrome: prenatal ultrasound diagnosis. BMC Pregnancy Childbirth. 2021, 21:548. 10.1186\/s12884-021-03960-w","journal-title":"BMC Pregnancy Childbirth"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30272","article-title":"Three new families with arterial tortuosity syndrome","volume":"131A","author":"Wessels MW","year":"2004","unstructured":"Wessels MW, Catsman-Berrevoets CE, Mancini GM, et al.. Three new families with arterial tortuosity syndrome. Am J Med Genet A. 2004, 131A:134-43. 10.1002\/ajmg.a.30272","journal-title":"Am J Med Genet A"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/ng1764","article-title":"Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome","volume":"38","author":"Coucke PJ","year":"2006","unstructured":"Coucke PJ, Willaert A, Wessels MW, et al.. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet. 2006, 38:452-7. 10.1038\/ng1764","journal-title":"Nat Genet"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-014-0122-5","article-title":"Arterial tortuosity syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review","volume":"15","author":"Ritelli M","year":"2014","unstructured":"Ritelli M, Chiarelli N, Dordoni C, et al.. Arterial tortuosity syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review. BMC Med Genet. 2014, 15:122. 10.1186\/s12881-014-0122-5","journal-title":"BMC Med Genet"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111\/cup.14228","article-title":"Ultrastructure abnormalities of collagen and elastin in Arab patients with arterial tortuosity syndrome","volume":"49","author":"Faiyaz-Ul-Haque M","year":"2022","unstructured":"Faiyaz-Ul-Haque M, Mubarak M, AbdulWahab A, et al.. Ultrastructure abnormalities of collagen and elastin in Arab patients with arterial tortuosity syndrome. J Cutan Pathol. 2022, 49:618-22. 10.1111\/cup.14228","journal-title":"J Cutan Pathol"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.atherosclerosis.2008.07.026","article-title":"A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome","volume":"203","author":"Faiyaz-Ul-Haque M","year":"2009","unstructured":"Faiyaz-Ul-Haque M, Zaidi SH, Al-Sanna N, et al.. A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. Atherosclerosis. 2009, 203:466-71. 10.1016\/j.atherosclerosis.2008.07.026","journal-title":"Atherosclerosis"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2012.06.070","article-title":"Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity","volume":"61","author":"Moceri P","year":"2013","unstructured":"Moceri P, Albuisson J, Saint-Faust M, et al.. Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity. J Am Coll Cardiol. 2013, 61:783. 10.1016\/j.jacc.2012.06.070","journal-title":"J Am Coll Cardiol"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35776","article-title":"Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations","volume":"161A","author":"Takahashi Y","year":"2013","unstructured":"Takahashi Y, Fujii K, Yoshida A, Morisaki H, Kohno Y, Morisaki T. Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations. Am J Med Genet A. 2013, 161A:856-9. 10.1002\/ajmg.a.35776","journal-title":"Am J Med Genet A"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.2478\/bjmg-2018-0009","article-title":"Clinical variability in two Macedonian families with arterial tortuosity syndrome","volume":"21","author":"Kocova M","year":"2018","unstructured":"Kocova M, Kacarska R, Kuzevska-Maneva K, et al.. Clinical variability in two Macedonian families with arterial tortuosity syndrome. Balkan J Med Genet. 2018, 21:47-52. 10.2478\/bjmg-2018-0009","journal-title":"Balkan J Med Genet"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.5137\/1019-5149.JTN.7941-13.0","article-title":"Epilepsy as the first presentation of arterial tortuosity syndrome in a young girl: a case report","volume":"24","author":"Chen S","year":"2014","unstructured":"Chen S, Hong Y, Sherchan P, Zhang JM. Epilepsy as the first presentation of arterial tortuosity syndrome in a young girl: a case report. Turk Neurosurg. 2014, 24:419-21. 10.5137\/1019-5149.JTN.7941-13.0","journal-title":"Turk Neurosurg"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01049.x","article-title":"Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families","volume":"74","author":"Faiyaz-Ul-Haque M","year":"2008","unstructured":"Faiyaz-Ul-Haque M, Zaidi SH, Wahab AA, et al.. Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. Clin Genet. 2008, 74:189-93. 10.1111\/j.1399-0004.2008.01049.x","journal-title":"Clin Genet"},{"key":"ref19","article-title":"Arterial tortuosity syndrome: case report","volume":"23","author":"Karakurt C","year":"2012","unstructured":"Karakurt C, Ko\u00e7ak G, Elkiran O, Coucke PJ, Van Maldergem L. Arterial tortuosity syndrome: case report. Genet Couns. 2012, 23:477-82.","journal-title":"Genet Couns"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31514","article-title":"Two novel SLC2A10\/GLUT10 mutations in a patient with arterial tortuosity syndrome","volume":"143A","author":"Drera B","year":"2007","unstructured":"Drera B, Guala A, Zoppi N, Gardella R, Franceschini P, Barlati S, Colombi M. Two novel SLC2A10\/GLUT10 mutations in a patient with arterial tortuosity syndrome. Am J Med Genet A. 2007, 143A:216-8. 10.1002\/ajmg.a.31514","journal-title":"Am J Med Genet A"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/120627-arterial-tortuosity-syndrome-in-a-newborn-a-case-report-with-literature-review","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T07:04:35Z","timestamp":1793689475000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/120627-arterial-tortuosity-syndrome-in-a-newborn-a-case-report-with-literature-review"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,24]]},"references-count":20,"URL":"https:\/\/doi.org\/10.7759\/cureus.32899","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2022,12,24]]}}}