Definition
Deficiency of tibia resulting in short leg and associated knee and ankle deformity
Epidemiology
Extremely rare: 1/1,000,000
Autosomal dominant - only skeletal deficiency with a documented familial occurrence
Bilateral 30%
Clinical
Anterolateral bowing
Significant leg length discrepancy - short tibia +/- short femur
Ankle equinovarus
Knee - unstable, deficient quadriceps
Hypoplastic great toe / reduplication of toes
Jones classification
| Type 1 | Type 2 | Type 3 | Type 4 |
|---|---|---|---|
| Complete absence of tibia | Proximal tibia present | Distal tibial present | Short tibia |
|
Knee unstable Distal femur hypoplastic Foot abnormalities |
Knee unstable Ankle equinovarus |
Distal tibia-fibula diastatsis |
Management
Options
Amputation
Reconstruction
Type 1: Complete absence of tibia
Brown procedure
- fibula transfer + centralization
- Syme amputation of foot
- poor outcomes due to knee stiffness / instability
Fibula lengthening + fusion knee / ankle
- 10 cases of fibula lengthening and knee and ankle fusion
- no amputations or fusions
Amputation / knee disarticulaation
Type 2: Proximal tibia present
Knee: tibia - fibular synostosis
Tibial lengthening
Below knee amputation
Type 3: Distal tibia present
Amputation / knee disarticulation
Type 4: Short tibia with ankle diastasis
Distal tibia - fibular stabilization
Tibial osteotomy / lengthening
Foot centralization / ankle releases / amputation
