MESOMELIC DYSPLASIA

Mesomelic dysplasia is a hereditary bone dysplasia with shortening of the intermediate segments of bone (radius and ulna or tibia and fibula).

TYPES

• Langer type (autosomal recessive).
• Mental impairment.
• Mesomelic shortening of limbs.
• Hypoplasia of the ulna and fibula.
• Hypoplasia of mandible (short condyles).
• Nievergelt type (autosomal dominant).
• Severe mesomelic shortening of lower limbs.
• Marked thickening of tibia and fibula centrally.
• Clubfoot.
• Reinhardt type (AD).
• Robinow type (AD).
• Werner type (AD).
• Lamy-Bienefeld type (AD).
• Short radius, ulna and tibia.
• Absent fibula.
• Normal femur + humerus.
• Ligamentous laxity.

ULTRASOUND

• Shortening of all long bones (especially tibia and radius).
• Modeling deformity with widened diaphysis.
• Mild to moderate bowing.
• Hypoplasia of the fibula.
• Short and thick ulna with hypoplastic distal end.
• Madelung deformity of the wrist.

Robinow syndrome – all children and mother affected