short limb skeletal dysplasias

Short limb skeletal dysplasias are skeletal dysplasias which are characterized by limb shortening


Rhizomelic (proximal limb shortening)
Mesomelic (middle segment limb shortening)
  • dyschondrosteosis (Leri-Weil disease): limb shortening with a Madelung deformity
  • mesomelic dysplasia
    • type Langer
    • type Reinhardt-Pfeiffer
Acromesomelic (middle and distal segment limb shortening)
Acromelic (distal segment shortening)
  • asphyxiating thoracic dysplasia/Jeune's syndrome
    • narrow thorax with short ribs leading to respiratory distress
    • spur-like projections of the acetabular roof. Premature ossification of the femoral capital epiphyses
    • occasional postaxial hexadactyly
    • cone-shaped epiphyses in childhood
  • peripheral dysostosis

See also

Siehe auch: