Objective    To study the correlation of short stature homeobox-containing gene (SHOX) deficiency and mutation with skeleton X-ray characteristics of idiopathic short stature (ISS) patients.     Methods    Microsatellite analysis and exon sequence analysis were adopted to test SHOX deficiency and mutation in 354 ISS patients

and the results were compared with 196 controls with normal height. The ISS patients with SHOX deficiency and mutation were subjected to statistical analysis of skeleton X-ray characteristics.     Results    In the 354 ISS patients

abnormal SHOX were found in 35 cases (9.9%

35/354)

including 3 with exon mutation (8.6%

3/35) and 32 with SHOX deficiency (91.4%

32/35). As compared with the controls

the skeleton X-ray characteristics of the 35 ISS patients included slight Madelung deformity and obvious reduction of the included angle between the distal joint medial surfaces of the ulna and radius(P0.05

P0.01).     Conclusion    The skeleton X-ray characteristics of the ISS patients with abnormal SHOX gene include the reduction of the included angle between the distal joint medial surfaces of the ulna and radius

the vertical height increase of the radius

the increase of the distal height difference between the ulna and radius

etc. These characteristics are more serious in females than males and are more obvious with the increase of age.