Bone and Soft-Tissue Disorders
= heritable bone dysplasia with shortening of intermediate segments (radius + ulna or tibia + fibula)
- Langer type autosomal recessive
- mental impairment
- mesomelic shortening of limbs
- hypoplasia of ulna + fibula
- hypoplasia of mandible with short condyles
- Nievergelt type autosomal dominant
- severe mesomelic shortening of lower limbs
- marked thickening of tibia + fibula in central portion
- clubfoot (frequent)
- Reinhardt type: autosomal dominant
- Robinow type: autosomal dominant
- Werner type: autosomal dominant
- Lamy-Bienenfeld type autosomal dominant
- ligamentous laxity
- shortening of radius + ulna + tibia
- absent fibula
- normal femur + humerus
- shortening of all long bones at birth, most marked in tibia + radius
- modeling deformity with widening of diaphysis
- mild to moderate bowing
- hypoplasia of fibula with absent lateral malleolus
- short + thick ulna with hypoplastic distal end
- Madelung deformity of wrist
- hypoplasia of a vertebral body may be present