{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:43:06Z","timestamp":1790516586047,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2017,7,11]],"date-time":"2017-07-11T00:00:00Z","timestamp":1499731200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Weill\u2013Marchesani syndrome (WMS) is a rare form of acromelic dysplasia that is characterized by distinctive skeletal, ocular, and cardiovascular abnormalities. Previously described cardiac manifestations of WMS include aortic and pulmonary valve stenosis, mitral valve prolapse, mitral stenosis, and QTc prolongation. Autosomal dominant forms of WMS result from heterozygous pathogenic variants in <jats:italic>FBN1<\/jats:italic>, a gene with a well characterized role in the pathogenesis of thoracic aortic aneurysm (TAA) in the context of Marfan syndrome. In contrast, only one patient has been reported with aortic disease in WMS. Although the risk of aortic dissection from preceding TAA remains the leading cause of morbidity for individuals with Marfan syndrome, rare reports of arterial dissection in the peripheral vasculature have been described. Peripheral artery dissection has not been previously reported in other <jats:italic>FBN1\u2010<\/jats:italic>related diseases. We describe a three generation family with <jats:italic>FBN1<\/jats:italic>\u2010related WMS whose cardiovascular manifestations include TAA and cervical artery dissection, thus expanding the cardiovascular phenotype of WMS. Further research is required to quantify these risks and establish appropriate recommendations for cardiovascular imaging, medical management, and prophylactic surgical intervention in individuals with <jats:italic>FBN1\u00ad<\/jats:italic>\u2010related acromelic dysplasia.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38353","type":"journal-article","created":{"date-parts":[[2017,7,11]],"date-time":"2017-07-11T10:49:24Z","timestamp":1499770164000},"page":"2551-2556","source":"Crossref","is-referenced-by-count":24,"title":["Cervical artery dissection expands the cardiovascular phenotype in <i>FBN1<\/i>\u2010related Weill\u2013Marchesani syndrome"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1087-0283","authenticated-orcid":false,"given":"Kelsey","family":"Newell","sequence":"first","affiliation":[{"name":"Cardiovascular Genetics Program Massachusetts General Hospital Boston Massachusetts"},{"name":"Cardiology, Department of Medicine 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