{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T21:25:08Z","timestamp":1783977908180,"version":"3.55.0"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,11,7]],"date-time":"2023-11-07T00:00:00Z","timestamp":1699315200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A small number of case reports have documented a link between atlantoaxial dislocation (AAD) and vertebral artery dissection (VAD), but this association has never been described in patients with hereditary connective tissue disorders. We present a case of an 18\u2010year\u2010old female patient, diagnosed with Marfan syndrome since the age of one, who underwent brain MRA for intracranial aneurysm screening revealing tortuosity of the internal carotid and vertebral arteries as well as atlantoaxial dislocation. Since the patient was asymptomatic, a wait\u2010and\u2010see approach was chosen, but a follow\u2010up MRA after 18\u2009months showed the appearance of a dissecting pseudoaneurysm of the V3 segment of the left vertebral artery. Despite the patient being still asymptomatic, it was decided to proceed with C1\u2013C2 stabilization to prevent further vascular complications. Follow\u2010up imaging showed realignment of the atlantoaxial joint and reduction of the dissecting pseudoaneurysm of the left vertebral artery. In our patient, screening MRA has led to the discovery of asymptomatic arterial and skeletal abnormalities which, if left untreated, might have led to severe cerebrovascular complications. Therefore, AAD correction or close monitoring with MRA should be provided to MFS patients with this craniovertebral junction anomaly, even if asymptomatic.<\/jats:p>","DOI":"10.1002\/ajmg.a.63467","type":"journal-article","created":{"date-parts":[[2023,11,7]],"date-time":"2023-11-07T09:35:38Z","timestamp":1699349738000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Vertebral artery dissection caused by atlantoaxial dislocation in a patient with Marfan syndrome"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6409-7962","authenticated-orcid":false,"given":"Gianfranco","family":"Vornetti","sequence":"first","affiliation":[{"name":"Dipartimento di Scienze Biomediche e Neuromotorie Universit\u00e0 di Bologna  Bologna Italy"},{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma Neuroimmagini Funzionali e Molecolari  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedetta","family":"Renzetti","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Mediche e Chirurgiche Universit\u00e0 di Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulio","family":"Vara","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Mediche e Chirurgiche Universit\u00e0 di Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Tonon","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Biomediche e Neuromotorie Universit\u00e0 di Bologna  Bologna Italy"},{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma Neuroimmagini Funzionali e Molecolari  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaele","family":"Lodi","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Biomediche e Neuromotorie Universit\u00e0 di Bologna  Bologna Italy"},{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma Neuroimmagini Funzionali e Molecolari  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo","family":"Conti","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Biomediche e Neuromotorie Universit\u00e0 di Bologna  Bologna Italy"},{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neurochirurgia  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Serchi","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neurochirurgia  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Donti","sequence":"additional","affiliation":[{"name":"IRCCS Azienda Ospedaliero\u2010Universitaria di Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Mariucci","sequence":"additional","affiliation":[{"name":"IRCCS Azienda Ospedaliero\u2010Universitaria di Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Spinardi","sequence":"additional","affiliation":[{"name":"IRCCS Azienda Ospedaliero\u2010Universitaria di Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,11,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02272-2"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.5812\/archneurosci.26670"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-5949.2012.00376.x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1161\/HYPERTENSIONAHA.118.11647"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ocl.2007.04.003"},{"key":"e_1_2_8_7_1","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"Dietz H.","year":"2022"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007632-200002150-00022"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-018-3948-x"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.23736\/S0390-5616.16.03790-5"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-021-00298-7"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.110.990549"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.E.00445"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1177\/1358863X19900923"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A6732"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1177\/23969873221149848"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2021.12.020"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0034-1376371"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63467","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,13]],"date-time":"2024-02-13T09:55:52Z","timestamp":1707818152000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63467"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,7]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1002\/ajmg.a.63467"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63467","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,7]]},"assertion":[{"value":"2023-07-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63467"}}