Article
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.
American journal of medical genetics. Part A - 1 May 2013
Wischmeijer Anita, Van Laer Lut, Tortora Giada, Bolar Nikhita Ajit, Van Camp Guy, Fransen Erik, Peeters Nils, di Bartolomeo Roberto, Pacini Davide, Gargiulo Gaetano, Turci Simone, Bonvicini Marco, Mariucci Elisabetta, Lovato Luigi, Brusori Stefano, Ritelli Marco, Colombi Marina, Garavelli Livia, Seri Marco, Loeys Bart L
Abstract excerpt
Recently, mutations in the SMAD3 gene were found to cause a new autosomal dominant aneurysm condition similar to Loeys-Dietz syndrome (LDS), mostly with osteoarthritis, called aneurysms-osteoarthritis syndrome (AOS). Our 3-year-old propositus underwent correction of an inguinal hernia at 3 months and substitution of the ascending aorta for pathologic dilation at 12 months of age. Family history reveals aortic...
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