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Information

 Bone and Soft-Tissue Disorders

= heritable bone dysplasia with shortening of intermediate segments (radius + ulna or tibia + fibula)

  1. Langer type autosomal recessive
    • mental impairment
    • mesomelic shortening of limbs
    • hypoplasia of ulna + fibula
    • hypoplasia of mandible with short condyles
  2. Nievergelt type autosomal dominant
    • severe mesomelic shortening of lower limbs
    • marked thickening of tibia + fibula in central portion
    • clubfoot (frequent)
  3. Reinhardt type: autosomal dominant
  4. Robinow type: autosomal dominant
  5. Werner type: autosomal dominant
  6. Lamy-Bienenfeld type autosomal dominant
    • ligamentous laxity
    • shortening of radius + ulna + tibia
    • absent fibula
    • normal femur + humerus