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Updated: Jun 14 2021

Tibial Deficiency


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Images hemimelia_moved.jpg hemi_moved.jpg
  • summary
    • Tibial Deficiency is a congenital condition characterized by a longitudinal deficiency of the tibia with varying degrees of tibial absence.
    • Diagnosis is made radiographically with xrays of the tibia. 
    • Treatment is a variety of surgical options depending on the extent of deficiency and stability of knee joint. 
  • Etiology
    • Genetics
      • autosomal dominant inheritance pattern
        • obtain genetic counseling
    • Associated conditions
      • musculoskeletal conditions present in 75% of patients
        • ectrodactyly
        • preaxial polydactyly
        • ulnar aplasia
  • Classification
    • Jones classification
      • Jones Classification
      • Type 1a
      • No proximal tibia visible on radiograph
      • Extensor mech absent
      • Hypoplastic distal femoral epiphysis
      • Type 1b
      • Proximal tibia eventually ossifies and extensor mechanism will function
      • Distal femoral epiphysis appears normal
      • Type 2
      • Proximal tibia present at birth but short tibia
      • Type 3
      • Diaphyseal and distal tibia present but proximal tibia absent
      • Type 4
      • Short tibia, fibula migrated proximal, diastasis of distal tib-fib joint
    • Alternate system is Kalamachi and Dawe (types 1-3)
  • Presentation
    • Physical exam
      • deformity
        • shortening of the affected extremity
        • anterolateral bowing of the tibia
        • prominent fibular head
      • ROM & stability
        • the knee is usually flexed with an associated knee flexion contracture
          • it is important to evaluate for active knee extension
        • check stability of the knee joint in all planes
          • treatment is based primarily on the stability of the knee joint
      • foot deformity
        • there is often a rigid equinovarus and supination deformity of the foot
        • sole of foot faces perineum
  • Imaging
    • Radiographs
      • recommended
        • AP and lateral tibia/fibula
      • findings
        • show deficiency of the tibia
        • early radiographs may show small and minimally ossified distal femoral epiphysis
  • Treatment
    • Operative
      • knee disarticulation followed by prosthestic fitting
        • indications
          • complete absence of the tibia
          • no active knee extension present (most cases)
      • tibiofibular synostosis with modified Syme amputation
        • indications
          • proximal tibia present with intact extensor mechanism and minimal flexion contracture
      • Syme/Boyd amputation
        • indications
          • ankle diastasis
      • Brown Procedure (centralization of fibula under femur)
        • no longer recommended due to high failure rate
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