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Table 2 Comparison of CFC syndrome phenotype between Chinese patients and non-Chinese patients reported in the literature

From: Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients

 

BRAF n/N (%)

MAP2K1/2 n/N (%)

Total n/N (%)

A

B

p value

A

B

p value

A

B

p value

HCM

2/11 (18)

52/137 (38)

.33b

0/9 (0)

11/45 (24)

.18b

2/20 (10)

63/182 (35)

.02a

PVS

0/11 (0)

64/127 (50)

< .01a

2/9 (22)

18/48 (38)

.47b

2/20 (10)

82/175 (47)

< .01a

ASD

3/11 (27)

36/126 (29)

1.00b

4/9 (44)

7/39 (18)

.18b

7/20 (35)

43/165 (26)

.43a

VSD

0/11 (0)

10/87 (11)

.60b

0/9 (0)

4/21 (19)

.29b

0/20 (0)

14/108 (13)

.12b

Relative a/o macrocephaly

10/11 (91)

63/91 (69)

.17b

5/9 (56)

14/21 (67)

.69b

15/20 (75)

77/112 (69)

.61a

Curly a/o sparse hair

5/11 (45)

121/130 (93)

< .01b

2/9 (22)

31/40 (78)

< .01b

7/20 (35)

152/170 (89)

< .01b

Absent a/o sparse eyebrows

11/11 (100)

92/114 (81)

.21b

5/9 (56)

32/41 (78)

.21b

16/20 (80)

124/155 (80)

1.00b

Keratosis pilaris

2/11 (18)

22/46 (48)

.10b

4/9 (44)

4/6 (67)

.61b

6/20 (30)

26/52 (50)

.19a

Nevi

8/11 (73)

44/105 (42)

.06b

4/9 (44)

12/33 (36)

.71b

12/20 (60)

56/138 (41)

.15a

Hypotonia

6/11 (55)

89/112 (79)

.12b

4/9 (44)

32/37 (86)

.02b

10/20 (50)

121/149 (81)

< .01b

Epilepsy

0/11 (0)

34/111 (31)

.03b

1/9 (11)

13/40 (33)

.42b

1/20 (5)

47/151 (31)

.02a

ID

7/7 (100)

75/75 (100)

NA

5/5 (100)

25/27 (93)

1.00b

12/12 (100)

100/102 (98)

1.00b

Short stature

9/11 (82)

97/117 (83)

1.00b

5/9 (56)

32/41 (78)

.21b

14/20 (70)

129/158 (82)

.24b

Feeding difficulties

11/11 (100)

35/65 (54)

< .01b

8/9 (89)

6/15 (40)

.03b

19/20 (95)

41/80 (51)

< .01a

Cryptorchidism

1/11 (9)

12/40 (30)

.25b

4/9 (44)

8/12 (67)

.40b

5/20 (25)

20/52 (38)

.41a

Strabismus

4/11 (36)

61/111 (55)

.34a

4/9 (44)

22/38 (58)

.49b

8/20 (40)

83/149 (56)

.23a

Pectus deformity

7/11 (64)

45/102 (44)

.34a

5/9 (56)

24/38 (63)

.72b

12/20 (60)

69/140 (49)

.48a

Scoliosis

2/11 (18)

10/29 (34)

.45b

2/9 (22)

3/6 (50)

.33b

4/20 (20)

13/35 (37)

.24a

Polyhydramnios

8/11 (73)

60/96 (63)

.74b

4/9 (44)

25/36 (69)

.25b

12/20 (60)

85/132 (64)

.80a

Premature birth

5/11 (45)

30/70 (43)

1.00b

3/9 (33)

12/23 (52)

.44b

8/20 (40)

42/93 (45)

.81a

  1. A Chinese patients, B non-Chinese patients, ID intellectual disability, ASD atrial septal defect, VSD ventricular septal defect, PVS pulmonary valve stenosis, HCM hypertrophic cardiomyopathy
  2. ap value, per chi-square test
  3. bp value, per Fisher's precise test