eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | williams syndrome |
| Symptom | C0003499|supravalvular aortic stenosis |
| Sentences | 4 |
| PubMedID- 23394113 | We report a rare case of williams syndrome associated with supravalvular aortic stenosis, subvalvular aortic membrane, mitral regurgitation, aortic coarctation, and patent ductus arteriosus. |
| PubMedID- 25661907 | Surgical repair of supravalvular aortic stenosis in children with williams syndrome: a 30-year experience. |
| PubMedID- 20941567 | This technique of using a large patch has proven to be safe for williams syndrome patients with diffuse supravalvular aortic stenosis in the long term. |
| PubMedID- 23604363 | Case report: a 3-year-old boy with williams syndrome associated with supravalvular aortic stenosis was admitted to our hospital with disturbance of consciousness and a 2-month history of truncal ataxia. |
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