Dysmorphic signs in patients with non-syndromic short stature (ISS) excluding patients with Léri-Weill syndrome, with unknown diagnosis or with a diagnosis other than ISS
| Dysmorphic sign | Non-SHOX n = 1500 (%) | SHOX n = 34 (%) | p Value |
|---|---|---|---|
| SHOX, short-stature homeobox containing gene. | |||
| Comparison between patients without confirmed SHOX deficiency (non-SHOX) versus patients with confirmed SHOX deficiency (SHOX). | |||
| p Values were calculated using Fisher’s exact test. | |||
| Micrognathia | 208 (13.9) | 3 (8.8) | 0.613 |
| High-arched palate | 438 (29.2) | 9 (26.5) | 0.850 |
| Short forearm | 97 (6.5) | 7 (20.6) | 0.006 |
| Bowing of forearm | 49 (3.3) | 4 (11.8) | 0.027 |
| Cubitus valgus | 116 (7.7) | 5 (14.7) | 0.183 |
| Short hands | 287 (19.1) | 7 (20.6) | 0.836 |
| Madelung deformity with pain | 4 (0.3) | 0 | 0.999 |
| Madelung deformity without pain | 22 (1.5) | 2 (5.9) | 0.097 |
| Dislocation of ulna at elbow | 6 (0.4) | 3 (8.8) | <0.001 |
| Short lower leg | 90 (6.0) | 5 (14.7) | 0.055 |
| Bowing of tibia | 39 (2.6) | 5 (14.7) | 0.002 |
| Genu valgum | 64 (4.3) | 2 (5.9) | 0.655 |
| Short feet | 187 (12.5) | 6 (17.6) | 0.427 |
| Scoliosis | 40 (2.7) | 2 (5.9) | 0.238 |
| Muscular hypertrophy | 132 (8.8) | 9 (26.5) | 0.003 |
| Other dysmorphic signs | 235 (15.7) | 5 (14.7) | 0.999 |