Table 2.
Statistical data of clinical features of 74 probands in four groups: NF1 vs. non-NF1, NF1+ vs. NF1−
| Clinical Group | Featuresa | NF1 + | NF1 − | NF1 CPT | non-NF1 CPT | NF1+ % | NF1− % | NF1 CPT % | non-NF1 CPT % | Fisher’s test P value (NF1+ vs. NF1−) | Fisher’s test P value (NF1 vs. non-NF1) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | 74 | 43 | 11 | 54 | 20 | ||||||
| Bowing time | 0.098 | 0.587 | |||||||||
| <1y | 32 | 10 | 42 | 19 | 82.1 | 90.9 | 84.0 | 95.0 | |||
| 1-3y | 7 | 0 | 7 | 1 | 17.9 | 0.0 | 14.0 | 5.0 | |||
| >3y | 0 | 1 | 1 | 0 | 0.0 | 9.1 | 2.0 | 0.0 | |||
| NA | 4 | 0 | 4 | 0 | |||||||
| Crawford classification | 0.004 | 0.001 | |||||||||
| I | 0 | 2 | 2 | 2 | 0.0 | 18.2 | 3.7 | 10.0 | |||
| II | 11 | 4 | 15 | 2 | 25.6 | 36.4 | 27.8 | 10.0 | |||
| III | 0 | 1 | 1 | 6 | 0.0 | 9.1 | 1.9 | 30.0 | |||
| IV | 32 | 4 | 36 | 10 | 74.4 | 36.4 | 66.7 | 50.0 | |||
| Fracture | 0.156 | 0.247 | |||||||||
| Yes | 20 | 5 | 18 | 14 | 71.4 | 45.5 | 56.3 | 73.7 | |||
| No | 8 | 6 | 14 | 5 | 28.6 | 54.5 | 43.8 | 26.3 | |||
| NA | 15 | 0 | 22 | 1 | |||||||
| Fracture time | 0.161 | 0.265 | |||||||||
| <1y | 14 | 4 | 18 | 8 | 42.4 | 80.0 | 47.4 | 57.1 | |||
| 1-3y | 14 | 0 | 14 | 2 | 42.4 | 0.0 | 36.8 | 14.3 | |||
| >3y | 5 | 1 | 6 | 4 | 15.2 | 20.0 | 15.8 | 28.6 | |||
| NA | 10 | 6 | 16 | 6 | |||||||
| Lateralization | 0.502 | 0.558 | |||||||||
| Unilateral | 41 | 10 | 51 | 20 | 95.3 | 90.9 | 94.4 | 100.0 | |||
| Bilateral | 2 | 1 | 3 | 0 | 4.7 | 9.1 | 5.6 | 0.0 | |||
| Brace | 0.129 | 0.008 | |||||||||
| Yes | 34 | 6 | 40 | 20 | 79.1 | 54.5 | 74.1 | 100.0 | |||
| No | 9 | 5 | 14 | 0 | 20.9 | 45.5 | 25.9 | 0.0 | |||
| Tibial union on last followup | 0.171 | 0.435 | |||||||||
| Yes | 36 | 11 | 47 | 19 | 83.7 | 100.0 | 87.0 | 95.0 | |||
| No | 7 | 0 | 7 | 1 | 16.3 | 0.0 | 13.0 | 5.0 | |||
| APTE | 0.09 | 0.659 | |||||||||
| Yes | 4 | 0 | 4 | 2 | 36.4 | 0.0 | 7.4 | 10.0 | |||
| No | 7 | 11 | 50 | 18 | 63.6 | 100.0 | 92.6 | 90.0 | |||
| Pathology | |||||||||||
| FTH | 34 | 5 | 39 | 15 | 100.0 | 100.0 | 100.0 | 100.0 | |||
| HD | 29 | 5 | 34 | 14 | 85.3 | 100.0 | 87.2 | 93.3 | |||
| TWA | 34 | 4 | 38 | 14 | 100.0 | 80.0 | 97.4 | 93.3 | |||
| MD | 4 | 3 | 7 | 1 | 11.8 | 60.0 | 17.9 | 6.7 | 0.032 | 0.419 | |
| CTF | 8 | 3 | 11 | 5 | 23.5 | 60.0 | 28.2 | 33.3 | 0.125 | 0.747 | |
| ICI | 3 | 0 | 3 | 3 | 8.8 | 0.0 | 7.7 | 20.0 | 1 | 0.331 | |
| MGC | 5 | 1 | 6 | 2 | 14.7 | 20.0 | 15.4 | 13.3 | |||
| NA | 9 | 6 | 15 | 5 | |||||||
ay - year(s) old; NF1+ NF1 pathogenic variants identified, NF1− no NF1 pathogenic variants identified. NA not available, APTE Abnormality of the proximal tibial epiphysis, FTH Fibrovascular tissue hyperplasia, HD hyaline degeneration, TWA thick-walled angiogenesis, MD mucoid denaturation, CTF chondroid tissue focally, MGC multinuclear giant cells, ICI inflammatory cell infiltration