Thoracic Aortic Aneurysm in Infancy in Aneurysms-Osteoarthritis Syndrome Due to a Novel SMAD3 Mutation: Further Delineation of the Phenotype

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 an...

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