Table 6 Skeletal, facial, skin, and dental
|  | TS1 Gly406Arg yes/total (%) n = 30 | TS2 Gly406Arg yes/total (%) n = 11 | Gly402Ser yes/total (%) n = 6 | Diagnosed nsLQT8 yes/total (%) n = 12 | Other yes/total (%) n = 28 | Correlation p-value |
|---|---|---|---|---|---|---|
Bone development abnormalities | 28/30 (93) | 6/11 (55) | 0/6 (0) | 0/11 (0) | 16/27 (59) | 0.0054 |
 Finger syndactyly | 28/30 (93) | 1/11 (9) | 0/6 (0) | 0/11 (0) | 13/27 (48) | < 0.0001 |
  Includes 4–5 | 26/28 (93) | 1/11 (9) | --- | --- | 10/27 (37) |  |
  Bilateral | 18/28 (64) | 1/11 (9) | --- | --- | 7/27 (26) |  |
  Toe syndactyly | 24/30 (80) | 1/11 (9) | 0/6 (0) | 0/10 (0) | 11/27 (41) |  |
  2–3 toe | 23/24 (96) | 1/11 (9) | --- | --- | 10/27 (37) |  |
  Bilateral | 23/24 (96) | 1/11 (9) | --- | --- | 10/27 (27) |  |
 Hip dysplasia | 1/30 (3) | 3/9 (33) | 0/6 (0) | 0/3 (0) | 2/17 (12) |  |
 Joint contractors | 0/30 (0) | 6/8 (75) | 0/6 (0) | 0/3 (0) | 0/17 (0) |  |
 Club foot | 0/30 (0) | 3/11 (27) | 0/6 (0) | 0/3 (0) | 1/17 (6) |  |
Facial abnormalities | 26/27 (96) | 8/8 (100) | 6/6 (100) | 3/3 (100) | 20/21 (95) | > 0.9999 |
 Round face | 23/25 (92) | 7/9 (78) | 3/6 (50) | 2/3 (67) | 12/21 (57) |  |
 Broad forehead | 23/23 (100) | 7/9 (78) | 4/6 (67) | --- | 5/21 (29) |  |
 Thin upper lip | 22/22 (100) | 7/9 (78) | 6/6 (100) | 0/3 (0) | 2/21 (13) |  |
 Depressed maxillary | 5/23 (22) | 0/7 (0) | 0/6 (0) | 0/3 (0) | 0/21 (0) |  |
 Low set ears | 11/22 (50) | 7/9 (78) | 0/6 (0) | 1/3 (33) | 8/21 (38) |  |
 Flat bridge nose | 6/15 (40) | 2/4 (50) | 1/6 (17) | 0/3 (0) | 7/21 (33) |  |
 Hypertelorism | 10/22 (45) | --- | 0/6 (0) | --- | 1/21 (5) |  |
 Flat philtrum | 6/21 (29) | 1/9 (11) | 0/6 (0) | 0/3 (0) | 0/21 (0) |  |
 Bald at birth | 26/27 (96) | 2/11 (18) | 1/6 (17) | 1/3 (33) | 11/21 (52) |  |
Skin abnormalities | 26/27 (96) | 6/11 (55) | 3/6 (50) | 7/7 (100) | 9/12 (75) | 0.0025 |
 Skin sloughing | 7/20 (35) | 2/2 (100) | 0/6 (0) | 1/7 (14) | 5/12 (42) |  |
 Odd color | 9/20 (45) | 1/5 (20) | 1/6 (17) | 2/7 (29) | 1/12 (8) |  |
 Hot/cold sensitivity | 26/27 (96) | 2/11 (18) | 3/6 (50) | 5/7 (71) | 9/12 (75) |  |
Dental abnormalities | 16/22 (73) | 7/7 (100) | 2/6 (33) | 9/9 (100) | 20/21 (95) | 0.0029 |
 Frequent cavities | 9/22 (41) | 3/5 (60) | 0/6 (0) | 3/9 (33) | 7/21 (33) |  |
 Small teeth | 11/18 (61) | 2/5 (40) | 0/6 (0) | 2/9 (22) | 3/21 (14) |  |
 Misplaced teeth | 9/11 (82) | 3/3 (100) | 1/6 (17) | 3/9 (33) | 6/21 (29) |  |
 Tooth extraction surgery | 7/16 (44) | 4/7 (57) | 1/6 (17) | 4/9 (44) | 6/21 (29) |  |
 Sedation concerns | 4/9 (44) | 2/2 (100) | --- | 0/9 (0) | 1/21 (5) |  |