Dysmorphic signs in patients without SHOX deficiency (non-SHOX), with SHOX deficiency (SHOX) and with Turner syndrome; both the non-SHOX and SHOX groups include patients with Léri-Weill syndrome
| Dysmorphic sign | Non-SHOX n = 1540 (%) | SHOX n = 68 (%) | Turner syndrome n = 33 (%) | p Value Non-SHOX vs SHOX | p Value SHOX vs Turner syndrome | p Value Non-SHOX vs Turner syndrome |
|---|---|---|---|---|---|---|
| SHOX, short-stature homeobox containing gene. | ||||||
| p Values were calculated using Fisher’s exact test. | ||||||
| Micrognathia | 221 (14.4) | 16 (23.5) | 3 (9.1) | 0.052 | 0.106 | 0.613 |
| High-arched palate | 457 (29.7) | 34 (50.0) | 24 (72.7) | <0.001 | 0.034 | <0.001 |
| Short forearm | 108 (7.0) | 25 (36.8) | 2 (6.1) | <0.001 | <0.001 | 0.999 |
| Bowing of forearm | 61 (4.0) | 15 (22.1) | 3 (9.1) | <0.001 | 0.165 | 0.148 |
| Cubitus valgus | 129 (8.4) | 16 (23.5) | 20 (60.6) | <0.001 | <0.001 | <0.001 |
| Short hands | 304 (19.7) | 13 (19.1) | 7 (21.2) | 0.999 | 0.796 | 0.826 |
| Madelung deformity with pain | 5 (0.3) | 2 (2.9) | 0 | 0.032 | 0.999 | 0.999 |
| Madelung deformity without pain | 30 (1.9) | 14 (20.6) | 1 (3.0) | <0.001 | 0.019 | 0.485 |
| Dislocation of ulna at elbow | 8 (0.5) | 5 (7.4) | 0 | <0.001 | 0.170 | 0.999 |
| Short lower leg | 100 (6.5) | 17 (25.0) | 2 (6.1) | <0.001 | 0.029 | 0.999 |
| Bowing of tibia | 50 (3.2) | 15 (22.1) | 2 (6.1) | <0.001 | 0.050 | 0.298 |
| Genu valgum | 69 (4.5) | 8 (11.8) | 3 (9.1) | 0.014 | 0.999 | 0.189 |
| Short feet | 198 (12.9) | 11 (16.2) | 2 (6.1) | 0.459 | 0.212 | 0.423 |
| Scoliosis | 43 (2.8) | 3 (4.4) | 3 (9.1) | 0.441 | 0.389 | 0.069 |
| Muscular hypertrophy | 142 (9.2) | 24 (35.3) | 1(3.0) | <0.001 | <0.001 | 0.357 |
| Other dysmorphic signs | 251 (16.3) | 8 (11.8) | 19 (57.6) | 0.400 | <0.001 | <0.001 |