Ingrid M B H van de Laar, Rogier A Oldenburg, Gerard Pals, Jolien W Roos-Hesselink, Bianca M de Graaf, Judith M A Verhagen, Yvonne M Hoedemaekers, Rob Willemsen, Lies-Anne Severijnen, Hanka Venselaar, Gert Vriend, Peter M Pattynama, Margriet Collée, Danielle Majoor-Krakauer, Don Poldermans, Ingrid M E Frohn-Mulder, Dimitra Micha, Janneke Timmermans, Yvonne Hilhorst-Hofstee, Sita M Bierma-Zeinstra, Patrick J Willems, Johan M Kros, Edwin H G Oei, Ben A Oostra, Marja W Wessels, Aida M Bertoli-Avella
Thoracic aortic aneurysms and dissections are a main feature of connective tissue disorders, such as Marfan syndrome and Loeys-Dietz syndrome. We delineated a new syndrome presenting with aneurysms, dissections and tortuosity throughout the arterial tree in association with mild craniofacial features and skeletal and cutaneous anomalies. In contrast with other aneurysm syndromes, most of these affected individuals presented with early-onset osteoarthritis. We mapped the genetic locus to chromosome 15q22.2-24...
February 2011: Nature Genetics