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http://upload.orthobullets.com/topic/4043/images/Xray 2 - colorado_moved.jpg
http://upload.orthobullets.com/topic/4043/images/AP xrays cervical pseudoarthrosis_moved.jpg
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http://upload.orthobullets.com/topic/4043/images/clinical photo_moved.jpg
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 (1)

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

QID:3634
1

Cleidocranial dysplasia

5%

(112/2424)

2

Congenital radial head dislocation

5%

(114/2424)

3

Apert syndrome

12%

(293/2424)

4

Achondroplasia

8%

(183/2424)

5

Proximal focal femoral deficiency

71%

(1717/2424)

Select Answer to see Preferred Response

PREFERRED RESPONSE 5

Proximal focal femoral deficiency (PFFD) is a developmental disorder that is present at birth and caused by a defect in the cartilage anlage of the proximal femur. It is associated with deficiency in development of the proximal femur, cervical pseudoarthrosis, fibular hemimelia, coxa vara, and ACL deficiency.

Westberry and Davids review the diagnosis, management, and various controversies regarding PFFD. While treatment options in PFFD are numerous, strategies should be used which maximize patient function by consideration of hip stability and projected limb length difference.

Manner et al performed a radiographic analysis on 34 knees in patients with longitudinal congenital deficiency of the lower limb to assess the relation to the cruciate ligaments. They found three distinct types of cruciate ligament deficiency, observed on tunnel view radiographs and suggest the diagnosis/differentiation between absence and aplasia can be made on radiographs alone.

Incorrect answers
1) Cleidocranial dysplasia - caused by mutation in the CBFA1 gene (aka Runx2) with associated cranial abnormalities and absent development of the clavicle.
2) Congenital radial head dislocation - not associated with ACL deficiency.
3) Apert syndrome - caused by mutation in the FGFR2 gene with associated facial and skeletal dysplasias, but no association with ACL deficiency.
4) Achondroplasia - caused by mutation in the FGFR3 gene and not associated with ACL deficiency.


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