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Updated: Jun 14 2021

Proximal Femoral Focal Deficiency

Images 2 - colorado_moved.jpg xrays cervical pseudoarthrosis_moved.jpg photo_moved.jpg
  • summary
    • Proximal Femoral Focal Deficiency is a congenital condition caused by a defect in the primary ossification center of the proximal femur that may present with an absent hip, femoral neck pseudoarthrosis, absent femur, or a shortened femur. 
    • Diagnosis is made with radiographs of the hip and femur.
    • Treatment is nonoperative or operative depending on location and size of the femoral defect, as well as presence of bilateral involvement.
  • Epidemiology
    • Anatomic location
      • bilateral (15%)
  • Etiology
    • Pathophysiology
      • defect in the primary ossification center (cartilage anlage)
    • Spectrum
      • spectrum of disease includes
        • absent hip
        • femoral neck pseudoarthrosis
        • absent femur
        • shortened femur
    • 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%)
        • 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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