The Ross Procedure in a Case of Baraitser-Winter Syndrome: A Case Report
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...
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| Veröffentlicht in: | Curēus (Palo Alto, CA) CA), 2024-01, Vol.16 (1), p.e52331 |
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| creator | Alotabi, Raghad A Alamri, Orjowan Z Alenezi, Shahad E Suliman, Ihab |
| description | 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. |
| doi_str_mv | 10.7759/cureus.52331 |
| format | Article |
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It is characterized by intellectual disability, physical malformations, and dysmorphic craniofacial features. Additionally, cardiovascular abnormalities may also be present. 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| source | PubMed Central Open Access; PubMed Central |
| subjects | Antibiotics Cardiology Case reports Congenital diseases Coronary vessels Genetic testing Genetics Intellectual disabilities Mitral valve prolapse Mutation Pediatrics Pulmonary arteries Ultrasonic imaging Veins & arteries |
| title | The Ross Procedure in a Case of Baraitser-Winter Syndrome: A Case Report |
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