{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T03:56:15Z","timestamp":1775793375578,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,12,17]],"date-time":"2013-12-17T00:00:00Z","timestamp":1387238400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:p>The purpose of this study was to assess the frequency, severity, and clinical associations of dural ectasia (DE) in Loeys\u2013Dietz syndrome (LDS). Database analysis of three German metropolitan regions identified 30 patients with LDS and <jats:italic><jats:styled-content style=\"fixed-case\">TGFBR1<\/jats:styled-content><\/jats:italic> mutation in 6 and a <jats:italic><jats:styled-content style=\"fixed-case\">TGFBR2<\/jats:styled-content><\/jats:italic> mutation in 24 individuals (17 men; mean age: 31 \u00b1 19 years), as well as 60 age and sex\u2010matched control patients with Marfan syndrome carrying a <jats:italic><jats:styled-content style=\"fixed-case\">FBN1<\/jats:styled-content><\/jats:italic> mutation. DE was present in 22 patients with LDS (73%), and it related to skeletal score points (p = 0.008), non\u2010skeletal score points (p &lt; 0.001), and to the presence of \u22657 systemic score points (p = 0.010). Similarly, the severity of DE was related to body height (p = 0.010) and non\u2010skeletal score points (p = 0.004). Frequency (p = 0.131) and severity of DE (p = 0.567) was similar in LDS and Marfan syndrome. DE is a manifestation of LDS that occurs with similar frequency and severity as in Marfan syndrome. Severity of DE may serve as a marker of the overall connective tissue disease severity. LDS may be considered in patients with DE.<\/jats:p>","DOI":"10.1111\/cge.12308","type":"journal-article","created":{"date-parts":[[2013,10,28]],"date-time":"2013-10-28T17:40:40Z","timestamp":1382982040000},"page":"545-551","source":"Crossref","is-referenced-by-count":20,"title":["Dural ectasia in Loeys\u2013Dietz syndrome: comprehensive study of 30 patients with a <i><scp>TGFBR1<\/scp><\/i> or <i><scp>TGFBR2<\/scp><\/i> mutation"],"prefix":"10.1111","volume":"86","author":[{"given":"S.","family":"Sheikhzadeh","sequence":"first","affiliation":[{"name":"Centre of Cardiology and Cardiovascular Surgery, Department of Cardiology University Medical Center Hamburg\u2010Eppendorf Hamburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Brockstaedt","sequence":"additional","affiliation":[{"name":"Centre of Cardiology and Cardiovascular Surgery, Department of Cardiology University Medical Center Hamburg\u2010Eppendorf Hamburg 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University Medical Center Hamburg\u2010Eppendorf Hamburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Staebler","sequence":"additional","affiliation":[{"name":"The Department of Clinical Radiology Ludwig Maximilians University, Klinikum Grosshadern Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Seidel","sequence":"additional","affiliation":[{"name":"The Department of Pediatric Cardiology and Congenital Heart Disease, Deutsches Herzzentrum M\u00fcnchen Technische Universit\u00e4t M\u00fcnchen Munich Germany"},{"name":"The Institute of Human Genetics Technische Universit\u00e4t M\u00fcnchen Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Keyser","sequence":"additional","affiliation":[{"name":"The Institute of Human Genetics Medical School Hannover 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