Table 3

 Dysmorphic signs in patients with confirmed SHOX deficiency

Dysmorphic signISS n = 34 (%)LWS n = 32 (%)p Values
SHOX, short-stature homeobox containing gene.
Comparison between patients with non-syndromic short stature (ISS) and patients with Léri-Weill syndrome (LWS). Note: the assignment to ISS or LWS was not obtained in 2 patients.
p Values were calculated using Fisher’s exact test.
Micrognathia3 (8.8)13 (40.6)0.004
High-arched palate9 (26.5)25 (78.1)<0.001
Short forearm7 (20.6)17 (53.1)0.010
Bowing of forearm4 (11.8)11 (34.4)0.040
Cubitus valgus5 (14.7)11 (34.4)0.086
Short hands7 (20.6)5 (15.6)0.752
Madelung deformity with pain02 (6.3)0.231
Madelung deformity without pain2 (5.9)12 (37.5)0.002
Dislocation of ulna at elbow3 (8.8)1 (3.1)0.614
Short lower leg5 (14.7)12 (37.5)0.049
Bowing of tibia5 (14.7)10 (31.3)0.145
Genu valgum2 (5.9)6 (18.8)0.143
Short feet6 (17.6)4 (12.5)0.734
Scoliosis2 (5.9)1 (3.1)0.999
Muscular hypertrophy9 (26.5)14 (43.8)0.197
Other dysmorphic signs5 (14.7)2 (6.3)0.428