Updated: 4/3/2017

Proximal Femoral Focal Deficiency

Topic
Review Topic
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0
Questions
2
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Evidence
4
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Cases
1
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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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Questions (2)

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(OBQ13.251) An 11-week-old infant presents with a leg length discrepancy and otherwise normal neurologic exam. A radiograph is shown in Figure A. It is predicted that the ankle of the involved limb will lie at the level of the knee joint of the normal limb at maturity. What recommendations should be given to the parents? Review Topic

QID: 4886
FIGURES:
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1

Immediate femoral-pelvic fusion

0%

(8/2523)

2

Immediate Syme amputation and knee fusion with hip stabilization at 1 year if the femoral head is deficient.

2%

(54/2523)

3

Delayed Syme amputation and knee fusion with hip stabilization at 1 year if the femoral head is deficient.

21%

(535/2523)

4

Delayed Van Ness rotationplasty with hip stabilization at 1 year if the femoral head is deficient.

69%

(1751/2523)

5

Immediate femoral lengthening

6%

(162/2523)

L 2

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SUBMIT RESPONSE 4

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(OBQ11.211) The anterior cruciate ligament is most likely deficient in patients with which of the following abnormalities? Review Topic

QID: 3634
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1

Cleidocranial dysplasia

5%

(127/2797)

2

Congenital radial head dislocation

4%

(119/2797)

3

Apert syndrome

11%

(318/2797)

4

Achondroplasia

8%

(213/2797)

5

Proximal focal femoral deficiency

72%

(2009/2797)

L 2

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SUBMIT RESPONSE 5
ARTICLES (6)
CASES (1)
Topic COMMENTS (17)
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