Leri-Weill syndrome
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 .
Genetics
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
- individuals have short stature
- forearm plain films often show features of a Madelung dyschondrosteosis or Madelung deformity.
History and etymology
First described by the renowned French neurologist Andre Leri (1875-1930) and J. Weill in 1929.
Differential diagnosis
- differential for mesomelic dwarfism
- differential for Madelung deformity
Siehe auch:
Assoziationen und Differentialdiagnosen zu Dyschondrosteose Léri Weill:
