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Table 2 Statistical data of clinical features of 74 probands in four groups: NF1 vs. non-NF1, NF1+ vs. NF1

From: Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients

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       
  1. 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