.... Short stature SHOX deficiency GH treatment Madelung deformity Leri-Weill dyschondrosteosis Longitudinal growth and final height are the results of multifactorial processes regulated by endocrine factors and intrinsic systems of the skeletal bones modulating the balance of proliferation...

... deficiency [ 28 ]. SHOX deficiency causes short stature with a highly variable phenotype which is frequently nonspecific in preschool children because the main characteristics of mesomelic disproportion of the limbs and Madelung deformity of the forearm develop over time and appear during the second...

..., triangularization of the radial head, abnormal tuberosity of the humerus, and an abnormal femoral neck. Shortening and bowing of the radius and dorsal dislocation of the distal ulna characterize the Madelung deformity. These characteristic findings led us to do a study assessing the predictive value of certain...

...Gerhard Binder; Heidi Fritsch; Roland Schweizer; Michael B. Ranke Background/Aims: Leri-Weill dyschondrosteosis (LWD), a mesomelic short stature syndrome with Madelung deformity, was recently reported to be caused by SHOX (short stature homeobox-containing gene) haploinsufficiency. The loss of SHOX...