Thoracic Aortic Aneurysm in Infancy in Aneurysms–O steoarthritis Syndrome Due to a Novel SMAD 3 Mutation: Further Delineation of the Phenotype
Volume: 161, Issue: 5, Pages: 1028 - 1035
Published: Mar 29, 2013
Abstract
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 dilation in his mother at 30 years,...
Paper Details
Title
Thoracic Aortic Aneurysm in Infancy in Aneurysms–O steoarthritis Syndrome Due to a Novel SMAD 3 Mutation: Further Delineation of the Phenotype
Published Date
Mar 29, 2013
Volume
161
Issue
5
Pages
1028 - 1035
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