Descriptive statistics of the diagnostic criteria for NF1 (n=50).
| Diagnostic criteria | n (%) |
|---|---|
| ≥6 Café-au-lait macules | 45 (90) |
| Skin-fold freckling | 17 (34) |
| ≥2 Neurofibroma | 6 (12) |
| ≥1 Plexiform neurofibroma | 12 (24) |
| ≥2 Iris Lisch nodules | 21 (42) |
| Optic pathway glioma | 17 (34) |
| Osseous distinctive lesions | |
| Thinning of the long bone cortex (-/+ pseudarthrosis) | 1 (2) |
| History of first-degree family with NF1 | 21 (42) |
| Father | 13 (26) |
| Mother | 9 (18) |
| Sibling | 15 (30) |