SHOX hapo insufficiency has been implicated in growth retardation and bone changes in Turner syndrome15 and Leri–Weill16 dyschondrosteosis and is also implicated in the slightly accelerated growth in KS, 47,XXX and 47,XYY syndrome.17 Overexpression of the SHOX gene is likely to be responsible for the normal stature seen in patients with KS.18,19 No definite pathogenic mutation was found in the patient's SHOX sequence. The gene discussed is SHOX; the disease is Down syndrome.