Table 1. Demographic characteristics and clinical presentations of the 16 patients.
| Patient no. | Gender | Age at presentation or diagnosis (y) | Age at last visit (y) | NIH criteria | Other presentations | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ≥6 CALS with diameter of >5 mm (prepubertal) or >15 mm (postpubertal) | ≥2 neurofibromas or 1 plexiform neurofibroma | Freckling in the axillary or inguinal regions | ≥2 Lisch nodules and (iris hamartomas) | Optic glioma | Scoliosis, sphenoid dysplasia or thinning of long bone cortex | 1 deg relative to NF1 | Short stature | Developmental delay | Learning disability | Social and behavioral disorders | ||||
| 1 | F | 5 | 19 | + | + | + | + | − | − | − | + | − | − | − |
| 2 | M | 14 | 25 | + | + | + | NT | − | − | + | + | − | + | − |
| 3 | M | 1.2 | 14 | + | + | + | − | − | + | − | − | + | + | − |
| 4 | M | 10.9 | 16 | + | + | + | − | − | − | − | − | − | − | − |
| 5 | M | 1.3 | 8 | + | − | + | − | − | − | − | + | + | + | − |
| 6 | M | 5.9 | 11 | + | − | + | − | − | − | − | − | − | + | − |
| 7 | M | 2.4 | 11 | + | − | + | − | − | − | − | + | − | − | − |
| 8 | F | 3.5 | 5 | + | + | + | − | + | − | − | + | + | + | + |
| 9 | M | 4.8 | 14 | + | − | + | − | − | − | − | − | + | + | + |
| 10 | M | 1.2 | 13 | + | − | + | + | − | − | + | + | − | + | − |
| 11 | F | 4.6 | 10 | + | + | − | − | − | − | − | − | + | + | + |
| 12 | M | 17.2 | 19 | + | + | + | − | − | − | − | + | − | − | − |
| 13 | M | 0.4 | 8 | − | − | − | NT | − | − | − | − | − | − | − |
| 14 | M | 28.6 | 32 | − | + | − | NT | − | − | − | − | − | − | − |
| 15 | M | 0.2 | 15 | − | − | − | − | − | − | − | − | − | − | − |
| 16 | M | 2.9 | 8 | + | − | − | − | − | − | − | + | − | − | − |
Abbreviations: CALS, café-au-lait spot; NF1, neurofibromatosis type 1; NIH, National Institutes of Health; NT, not tested.