eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | arterial tortuosity syndrome |
| Comorbidity | C0003486|aortic aneurysm |
| Sentences | 3 |
| PubMedID- 21949523 | They have distinctive phenotypic abnormalities including widely spaced eyes (hypertelorism), bifid uvula or cleft palate, and arterial tortuosity with aortic aneurysm or dissection throughout the arterial tree. |
| PubMedID- 22801769 | The loeys-dietz syndrome (lds; mim#609192) is typically characterized by the triad of hypertelorism (widely spaced eyes), bifid uvula/cleft palate, and arterial tortuosity with aortic aneurysm and dissection [29]. |
| PubMedID- 21441255 | Repair of ascending aortic aneurysm in a patient with arterial tortuosity syndrome. |
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