Skip to main content

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