Clinical features in affected individuals
| Family | Family 1 | Family 2 | Family 3 | Family 4 | Family 5 | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Individual | III:1 | IV:1 | III:2 | III:5 | IV:5 | I:1 | II:2 | II:3 | II:2 | II:1 | I:1 | II:2 | I:1 | II:1 | III:1 |
| Gender; age at most recent review (year) | Male; 70 (deceased) | Female; 23 | Female; 52 | Female; 50 | Male; 25 | Female; 30 | Female; 6 | Male; 5 | Male; 33 | Male; 26 | Male; 61 | Female; 32 | Female; 66 | Female; 44 | Male; 20 |
| OFC, cm (centile) | 59.0 (90th) | 57.0 (90th) | 55.0 (50th) | 54.3 (25th) | 56.4 (50th) | 56.8 (75th–91st) | n/k | 52.5 (50th–75th) | n/k | n/k | 60.5 | n/k | n/k | 59.0 (>97th) | 57.5 (50th–75th) |
| Height, cm (centile) | 162 (2nd) | n/k | 156 (9th) | 158 (25th) | 167 (9th) | 173 (91st–98th) | n/k | 105 (25th) | Normal range | 170 (2nd–9th) | 173 (9th–25th) | n/k | n/k | 146 (<0.4th) | 168 (2nd–9th) |
| CAL | 7 | 6 | None | None | 1 | None | 1 | None | None | None | None | Yes, multiple | None | None | None |
| Axillary or inguinal freckling | Yes | Few | None | None | None | None | (None) | (None) | None | None | None | Yes, axillary | None | Yes | None |
| Subcutaneous neurofibroma | Yes | Few | Several | 2 | Yes | Yes | (None) | (None) | None | Few | None | None | None | Yes | None |
| Cutaneous neurofibroma | Yes | None | Many | Several | Several | No | (None) | (None) | None | Yes | None | None | None | Yes | None |
| Plexiform neurofibroma | None | None | None | Yes, left clavicle | Yes, left thigh | Yes, left thigh | None | None | Yes, right flank | None | None | None | One | None | None |
| Histological verification | Yes | Yes | Yes | Yes | Yes | – | n/a | n/a | – | – | – | – | Yes | – | n/a |
| Lisch nodules | 2, unilateral | n/k | Bilateral | Bilateral | Bilateral | Yes | n/k | None | n/k | no | n/k | n/k | No | No | Few, bilateral |
| Spinal neurofibroma | Yes | n/k | No | Yes | Yes | Yes | n/k | n/k | Multiple | Multiple | Multiple | n/k | Not scanned | Multiple | Multiple |
| Scoliosis | No | No | n/k | Yes | Yes | Yes | No | No | No | No | n/k | n/k | No | No | No |
| Learning difficulty | No | Mild | Mild | No | No | No | No | Mild | No | No | Dyslexia | n/k | No | No | No |
| NIH diagnostic criteria met (before spinal investigations) (at age) | Yes (adult) | Yes (22 years) | Yes (adult) | Yes (adult) | Yes (20 years) | Yes (30 years) | No (6 years) | No (5 years) | No (33 years) | No (26 years) | No (61 years) | Yes (32 years) | No (66 years) | Yes (26 years) | No (20 years) |
CAL, café au lait macule; n/a, not applicable; n/k, not known; NIH, National Institutes of Health; OFC, occipitofrontal circumference.