Dyschondrosteose Léri Weill

The Leri-Weill syndrome is a rare autosomal dominant dyschondrosteosis characterized by mesomelic shortening of limbs.

Clinical presentation 

Patients present with short stature because of shortening of the forelegs (tibia/fibula defects) and forearms (with Madelung deformity). There is a higher prevalence in females .


A majority of individuals have a mutation in the human homeobox (SHOX) gene located on the X (Xp22.3) and Y (Yp11.2) chromosomes .

Radiographic features

Plain radiograph

History and etymology

First described by the renowned French neurologist Andre Leri (1875-1930) and J. Weill in 1929.

Differential diagnosis

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