PFFD ie proximal femoral focal deficiency

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.

1. PFFD

2. 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, F emoral neck pseudoarthrosis, A bsent femur, A shortened femur. 

3. However, The more comprehensive term congenital femoral deficiency (CFD) better describes the spectrum of deficiency, deformity, and discrepancy ranging from the congenital short femur to the most severe PFFD.

4. Genetics Sporadic but autosomal Dominant form also exist associated with  sonic hedge-hog gene  (limb bud)

5. Associated conditions Orthopedic manifestations  fibular hemimelia  (50%) ACL deficiency    C oxa Vara knee contractures N on Orthopedic manifestations dysmorphic facies found in rare autosomal dominant type

6. Clinical Presentation S evere shortening of one or both legs S hort bulky thigh that is  F lexed, Abducted, and   E xternally rotated Due to soft tissue contractures and bone shortening Normal feet

7. Classifaction Aitken classification most commonly used Paley classification for CFD

8. Treatment Goals of treatment T reatment must be individualized based on U ltimate leg length discrepancy P resence of foot deformities A dequacy of musculature P roximal joint stability

9. Nonoperative Observation indicated in a patient with bilateral deformity Extension Prosthesis less attractive option due to  proximal segment of prosthesis

10. Operative options A mbulation without prosthesis limb lengthening with or without contralateral epiphysiodesis I ndications 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

11. A mbulation with a prosthesis knee arthrodesis with foot ablation I ndications: I psilateral foot is proximal to the level of contralateral knee P rosthetic knee will not be below the level of the contralateral knee at maturity N eed for improved prosthetic fit, function, and appearance

12. F emoral-pelvic fusion (Brown's procedure) indications femoral head absent (Aiken classifications C & D)

13. Van Ness rotationplasty     I ndications 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

14. A mputation I ndications 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 fitting fit for prosthesis for lower extremity after 1 year