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CCA patients have a marfanoid habitus; however, aortic dilatation and\/or dissection as observed in Marfan syndrome have been rarely documented. Here, we report on a Japanese familial case of CCA resulting from a <jats:italic>FBN2<\/jats:italic> splicing mutation (IVS32+5g\u2192a), which leads to exon 32 being skipped, and the patients developed aortic dilatation and type A dissection. Although CCA patients have been believed to have favorable prognoses, repetitive aortic imaging studies must be performed in some patients to detect possible aortic disease early, and genetic testing of <jats:italic>FBN2<\/jats:italic> might be useful to identify such high\u2010risk patients. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37162","type":"journal-article","created":{"date-parts":[[2015,5,14]],"date-time":"2015-05-14T15:10:57Z","timestamp":1431616257000},"page":"2382-2387","source":"Crossref","is-referenced-by-count":34,"title":["Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature"],"prefix":"10.1002","volume":"167","author":[{"given":"Norifumi","family":"Takeda","sequence":"first","affiliation":[{"name":"Department of Cardiovascular Medicine The University of Tokyo Hospital Bunkyo\u2010ku Tokyo 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of Orthopedic Surgery The University of Tokyo Hospital Bunkyo\u2010ku Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasushi","family":"Imai","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Medicine Jichi Medical University Shimotsuke Tochigi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasunobu","family":"Hirata","sequence":"additional","affiliation":[{"name":"Tokyo Teishin Hospital Chiyoda\u2010ku Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Issei","family":"Komuro","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine The University of Tokyo Hospital Bunkyo\u2010ku Tokyo 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