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Introduction
  • Congenital defect of the proximal femur
    • spectrum of disease includes
      • absent hip
      • femoral neck pseudoarthrosis 
      • absent femur
      • shortened femur
  • Epidemiology
    • location
      • bilateral (15%)
  • Pathophysiology
    • defect in the primary ossification center (cartilage anlage)
  • Genetics
    • primarily sporadic etiology, but rare autosomal dominant form exists
    • associated with sonic hedge-hog gene (limb bud)
  • Associated conditions
    • orthopaedic manifestations  
      • fibular hemimelia (50%) 
      • ACL deficiency 
      • coxa vara
      • knee contractures
    • nonorthopaedic manifestations
      • dysmorphic facies found in rare autosomal dominant type
Classification

Aitken classification
Class
Femoral Head
Acetabulum
A
present
normal
B
present
mildly dysplastic
C
absent
severely dysplastic
D
absent
absent

Presentation
  • Physical exam
    • severe shortening of one or both legs 
      • percentage of shortening remains constant with growth
    • short bulky thigh that is flexed, abducted, and externally rotated
    • normal feet (most common)
Treatment
  • Goals of treatment
    • treatment must be individualized based on
      • ultimate leg length discrepancy
      • presence of foot deformities
      • adequacy of musculature
      • proximal joint stability
  • Nonoperative
    • observation
      • indications
        • often in children with bilateral deficiency
    • extension prosthesis
      • indications
        • less attractive option due to large proximal segment of prosthesis
        • assists patient when attempting to pull self up to stand
  • Operative
    • ambulation without prosthesis
      • limb lengthening with or without contralateral epiphysiodesis
        • indications
          • predicated limb length discrepancy of <20 cm  at maturity
          • stable hip and functional foot
          • femoral length >50% of opposite side
          • femoral head present (Aitken classifications A & B)
        • contraindications
          • unaddressed coxa vara, proximal femoral neck pseudoarthrosis, or acetabular dysplasia
    • ambulation with a prosthesis
      • knee arthrodesis with foot ablation
        • indications:
          • ipsilateral foot is proximal to the level of contralateral knee 
          • prosthetic knee will not be below the level of the contralateral knee at maturity
          • need for improved prosthetic fit, function, and appearance
      • femoral-pelvic fusion (Brown's procedure)
        • indications
          • femoral head absent (Aiken classifications C & D)
      • Van Ness rotationplasty 
        • indications
          • ipsilateral foot at level of contralateral knee
          • ankle with >60% of motion
          • absent femoral head (Aiken classifications C & D)
        • surgical technique
          • 180 degree rotational turn through the femur
          • ankle dorsiflexion becomes knee flexion
          • allows the use of a below-knee prosthesis to improve gait and efficiency
      • amputation
        • indications
          • femoral length <50% of opposite side
        • surgical technique
        • preserve as much length as possible
        • amputate through the joint, if possible, in order to avoid overgrowth which can lead to difficult prosthesis fittingfit for prosthesis for lower extremity after 1 year
 

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