eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | congenital fibrosis of extraocular muscles |
| Comorbidity | C0005745|ptosis |
| Sentences | 3 |
| PubMedID- 23277737 | Thus, pseudoptosis due to cfeom should be considered in differential diagnosis of ptosis to prevent surgical mismanagement. |
| PubMedID- 24612975 | Four unrelated participants, also not meeting mdc, had large-angle exotropia, vertical gaze deficiency, and ptosis consistent with congenital fibrosis of the extraocular muscles type 3 (cfeom3); 1 patient harbored a novel tubb3 mutation, and 3 patients harbored previously reported de novo tubb3 mutations. |
| PubMedID- 23248547 | Surgically mismanaged ptosis in a patient with congenital fibrosis of the extraocular muscles type i. |
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