Tibial Hemimelia

Definition

 

Paraxial deficiency of skeletal elements on medial aspect of lower limb

 

Epidemiology

 

Only skeletal deficiency with a documented familial occurrence 

- AD

 

1/ 1 000 000

 

Bilateral 30%

 

Clinical

 

Leg short +++

 

Tibial Anterolateral Bowing

 

Foot fixed in severe varus

- can mimic CTEV

- sole facing perineum

 

Knee

- FFD

- may be unstable

- no quads mechanism

 

Associations

 

Cleft hand

Reduplication of toes

CDH 20%

 

Classification

 

MRI to assess extent of proximal failure

 

1.  Unilateral Complete Type 1

 

No proximal tibial remnant

- usually foot abnormalities

- distal femur is hypoplastic & ossification delayed

- knee is featureless / unstable

 

Tibial Hemimelia Complete

 

Management

- amputation early

- around 1 year before child gets attached to it

 

2.  Unilateral Partial Type II

 

Well developed proximal tibia & knee joint

 

Tibial Hemimelia Partial

 

Management

 

A.  Knee

- proximal tibiofibular synostosis to prevent proximal migration

- fuse distal fibula to end of tibia

- then either symes or fuse fibula into calcaneus

 

B.  Ankle foot

- distal tibial deficiencies

- get equinovarus deformity similar to club foot

- tibiofibular synostosis

- then either keep foot if good or Symes

 

3.  Bilateral

 

Management

 

A.  Bilateral through knee amputation

 

B.  Can try to make fibula into tibia and perform symes on one side

- Brown procedure

- need good quadriceps