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Table 1 Demographics and clinical characteristics of the enrolled patients

From: Genetic insights into the ‘sandwich fusion’ subtype of Klippel–Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing

No

Age

Gender

Ethnicity

Language

Origin

Age at disease manifestation

Diagnosis

Pre-op JOA

Post-op JOA

Hereditary

Case 1

40

F

Han

Chinese

China

27

AAI; schizophrenia

17

17

Sporadic

Case 2

56

F

Han

Chinese

China

56

AAI; ossificaiton of posterior longitudinal ligament

14

16

Sporadic

Case 3

11

M

Han

Chinese

China

1

AAD; Sprengel’s deformity; T3-6 congenital fusion

17

17

Sporadic

Case 4

64

M

Han

Chinese

China

64

AAD; basilar invagination

14

16

Sporadic

Case 5

58

F

Han

Chinese

China

58

AAI

16

16

Sporadic

Case 6

47

F

Han

Chinese

China

27

AAD

11

14

Sporadic

Case 7

41

F

Han

Chinese

China

41

AAI

17

17

Sporadic

Case 8

61

M

Han

Chinese

China

51

AAD

12

14

Sporadic

Case 9

39

M

Han

Chinese

China

39

AAD

15

16

Sporadic

Case 10

51

F

Han

Chinese

China

31

AAI

14

16

Sporadic

Case 11

50

F

Han

Chinese

China

50

AAI

14

15

Sporadic

Case 12

66

M

Han

Chinese

China

59

AAD

12

14

Sporadic

Case 13

55

M

Han

Chinese

China

45

AAD

11

14

Sporadic

Case 14

49

F

Han

Chinese

China

39

AAD

12

14

Sporadic

Case 15

28

F

Han

Chinese

China

28

AAD; syringomyelia; diplopia

14

15

Sporadic

Case 16

42

M

Han

Chinese

China

36

AAD

13

15

Sporadic

Case 17

36

M

Han

Chinese

China

36

AAD

16

16

Sporadic

Case 18

77

F

Han

Chinese

China

65

AAD

15

16

Sporadic

Case 19

11

M

Han

Chinese

China

5

AAD; torticollis

17

17

Sporadic

Case 20

5

M

Han

Chinese

China

1

AAI

17

17

Sporadic

Case 21

8

M

Han

Chinese

China

8

AAD; hearing loss

17

17

Sporadic

  1. AAI, atlantoaxial instability, AAD, atlantoaxial dislocation