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 |