{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T03:48:50Z","timestamp":1787888930289,"version":"build-2784847793"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,9,23]],"date-time":"2013-09-23T00:00:00Z","timestamp":1379894400000},"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":[[2014,9]]},"abstract":"<jats:p>The purpose of this study was to perform a comprehensive study of dural ectasia (DE) related to <jats:italic><jats:styled-content style=\"fixed-case\">FBN1<\/jats:styled-content><\/jats:italic> mutations. We performed a database analysis of two German metropolitan regions of 150 patients (68 men, 82 women; mean age 35\u2009\u00b1\u200916\u2009years). All patients had a <jats:italic><jats:styled-content style=\"fixed-case\">FBN1<\/jats:styled-content><\/jats:italic> mutation and underwent dural magnetic resonance imaging. Age was &lt;16\u2009years in 20, 16\u201325 in 27, 26\u201335 in 67, and &gt;35 in 36 patients. Prevalence of dural ectasia was 89% with criteria of Oosterhof and Habermann, 83% with Fattori, 78% with Lundby, and 59% with Ahn. DE was less frequent in patients &lt;16\u2009years with Ahn and Fattori. DE related to skeletal manifestations with all criteria, to aortic <jats:italic>Z<\/jats:italic>\u2010scores and mitral valve prolapse with criteria of Habermann and Lundby, and to age with criteria of Fattori. The Fattori\u2010grade of DE increased with age, aortic <jats:italic>Z<\/jats:italic>\u2010scores, and skeletal score points. There was no consistent relationship of DE with any type of <jats:italic><jats:styled-content style=\"fixed-case\">FBN1<\/jats:styled-content><\/jats:italic> mutation. DE is frequent in patients with <jats:italic><jats:styled-content style=\"fixed-case\">FBN1<\/jats:styled-content><\/jats:italic> mutations irrespective of age and its severity increases during life. Criteria of Oosterhof and Habermann yielded most consistent diagnostic results. DE relates to skeletal involvement, aortic <jats:italic>Z<\/jats:italic>\u2010scores, and mitral valve prolapse.<\/jats:p>","DOI":"10.1111\/cge.12264","type":"journal-article","created":{"date-parts":[[2013,8,29]],"date-time":"2013-08-29T15:44:41Z","timestamp":1377791081000},"page":"238-245","source":"Crossref","is-referenced-by-count":25,"title":["Comprehensive analysis of dural ectasia in 150 patients with a causative <i><scp>FBN1<\/scp><\/i> mutation"],"prefix":"10.1111","volume":"86","author":[{"given":"S.","family":"Sheikhzadeh","sequence":"first","affiliation":[{"name":"Centre of Cardiology and Cardiovascular Surgery"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Sondermann","sequence":"additional","affiliation":[{"name":"Centre of Cardiology and Cardiovascular Surgery"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Rybczynski","sequence":"additional","affiliation":[{"name":"Centre of Cardiology and Cardiovascular Surgery"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.R.","family":"Habermann","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology University Medical Centre Hamburg\u2010Eppendorf  Hamburg Germany"},{"name":"Department of Diagnostic and Interventional Radiology Catholic Marienkrankenhaus  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Brockstaedt","sequence":"additional","affiliation":[{"name":"Centre of Cardiology and Cardiovascular Surgery"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Keyser","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Medical School  Hannover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Kaemmerer","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology and Congenital Heart Disease Deutsches Herzzentrum  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Mir","sequence":"additional","affiliation":[{"name":"Centre of Cardiology and Cardiovascular Surgery"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Staebler","sequence":"additional","affiliation":[{"name":"Department of Clinical Radiology Ludwig Maximilians University, Klinikum Grosshadern  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.N.","family":"Robinson","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics Charit\u00e9 Universit\u00e4tsmedizin  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Kutsche","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Berger","sequence":"additional","affiliation":[{"name":"Department of Medical Biometry and Epidemiology University Medical Centre Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Blankenberg","sequence":"additional","affiliation":[{"name":"Centre of Cardiology and Cardiovascular Surgery"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"von Kodolitsch","sequence":"additional","affiliation":[{"name":"Centre of Cardiology and Cardiovascular 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