Baraitser-Winter syndrome (BRWS) is a rare genetic disorder caused by mutations in the ACTB and ACTG1 genes. It is characterized by intellectual disability, physical malformations, and dysmorphic craniofacial features. Additionally, cardiovascular abnormalities may also be present. We present a case of a 15-year-old boy with BRWS associated with congenital bicuspid aortic valve and severe aortic insufficiency which was managed successfully with Ross procedure.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10866739 | PMC |
| http://dx.doi.org/10.7759/cureus.52331 | DOI Listing |
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