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Proximal Femoral Focal Deficiency
B.J. Manaster, MD, PhD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Clinical Issues

        TERMINOLOGY

        • Abbreviations

          • Proximal femoral focal deficiency (PFFD)
        • Definitions

          • Rare skeletal disorder characterized by failure of development of proximal femur, with varying degrees of shortening
            • Spectrum ranges from mild proximal femoral shortening and varus to complete absence of acetabulum and majority of femoral shaft

        IMAGING

        • General Features

          • Imaging Recommendations

            • Radiographic Findings

              • Arthrography

                • CT Findings

                  • MR Findings

                    • Ultrasonographic Findings

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Staging, Grading, & Classification

                            • Gross Pathologic & Surgical Features

                              • Microscopic Features

                                CLINICAL ISSUES

                                • Presentation

                                  • Demographics

                                    • Natural History & Prognosis

                                      • Treatment

                                        DIAGNOSTIC CHECKLIST

                                        • Consider

                                          Selected References

                                          1. Bergère A et al: Imaging features of lower limb malformations above the foot. Diagn Interv Imaging. ePub, 2015
                                          2. Canavese F et al: Rotationplasty as a salvage of failed primary limb reconstruction: up to date review and case report. J Pediatr Orthop B. 23(3):247-53, 2014
                                          3. Ackman J et al: Long-term follow-up of Van Nes rotationplasty in patients with congenital proximal focal femoral deficiency. Bone Joint J. 95-B(2):192-8, 2013
                                          4. Lin TH et al: Prenatal diagnosis of proximal femoral focal deficiency: a case report and literature review. Taiwan J Obstet Gynecol. 52(2):267-9, 2013
                                          5. Biko DM et al: Proximal focal femoral deficiency: evaluation by MR imaging. Pediatr Radiol. 42(1):50-6, 2012
                                          6. Chomiak J et al: Cruciate ligaments in proximal femoral focal deficiency: arthroscopic assessment. J Pediatr Orthop. 32(1):21-8, 2012
                                          7. Chomiak J et al: Computed tomographic angiography in proximal femoral focal deficiency. J Bone Joint Surg Am. 91(8):1954-64, 2009
                                          8. Taylor BC et al: Distal focal femoral deficiency. J Pediatr Orthop. 29(6):576-80, 2009
                                          9. Westberry DE et al: Proximal focal femoral deficiency (PFFD): management options and controversies. Hip Int. 19 Suppl 6:S18-25, 2009
                                          10. Oh KY et al: Unilateral short femur--what does this mean? Report of 3 cases. Ultrasound Q. 24(2):89-92, 2008
                                          11. Maldjian C et al: Efficacy of MRI in classifying proximal focal femoral deficiency. Skeletal Radiol. 36(3):215-20, 2007
                                          12. Bernaerts A et al: Value of magnetic resonance imaging in early assessment of proximal femoral focal deficiency (PFFD). JBR-BTR. 89(6):325-7, 2006
                                          13. Dora C et al: Morphologic characteristics of acetabular dysplasia in proximal femoral focal deficiency. J Pediatr Orthop B. 13(2):81-7, 2004
                                          14. Court C et al: Radiological study of severe proximal femoral focal deficiency. J Pediatr Orthop. 17(4):520-4, 1997
                                          15. Goddard NJ et al: Natural history and treatment of instability of the hip in proximal femoral focal deficiency. J Pediatr Orthop B. 4(2):145-9, 1995
                                          16. Pirani S et al: Soft tissue anatomy of proximal femoral focal deficiency. J Pediatr Orthop. 11(5):563-70, 1991
                                          Related Anatomy
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                                          Related Differential Diagnoses
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                                          References
                                          Tables

                                          Tables

                                          KEY FACTS

                                          • Terminology

                                            • Imaging

                                              • Clinical Issues

                                                TERMINOLOGY

                                                • Abbreviations

                                                  • Proximal femoral focal deficiency (PFFD)
                                                • Definitions

                                                  • Rare skeletal disorder characterized by failure of development of proximal femur, with varying degrees of shortening
                                                    • Spectrum ranges from mild proximal femoral shortening and varus to complete absence of acetabulum and majority of femoral shaft

                                                IMAGING

                                                • General Features

                                                  • Imaging Recommendations

                                                    • Radiographic Findings

                                                      • Arthrography

                                                        • CT Findings

                                                          • MR Findings

                                                            • Ultrasonographic Findings

                                                              DIFFERENTIAL DIAGNOSIS

                                                                PATHOLOGY

                                                                • General Features

                                                                  • Staging, Grading, & Classification

                                                                    • Gross Pathologic & Surgical Features

                                                                      • Microscopic Features

                                                                        CLINICAL ISSUES

                                                                        • Presentation

                                                                          • Demographics

                                                                            • Natural History & Prognosis

                                                                              • Treatment

                                                                                DIAGNOSTIC CHECKLIST

                                                                                • Consider

                                                                                  Selected References

                                                                                  1. Bergère A et al: Imaging features of lower limb malformations above the foot. Diagn Interv Imaging. ePub, 2015
                                                                                  2. Canavese F et al: Rotationplasty as a salvage of failed primary limb reconstruction: up to date review and case report. J Pediatr Orthop B. 23(3):247-53, 2014
                                                                                  3. Ackman J et al: Long-term follow-up of Van Nes rotationplasty in patients with congenital proximal focal femoral deficiency. Bone Joint J. 95-B(2):192-8, 2013
                                                                                  4. Lin TH et al: Prenatal diagnosis of proximal femoral focal deficiency: a case report and literature review. Taiwan J Obstet Gynecol. 52(2):267-9, 2013
                                                                                  5. Biko DM et al: Proximal focal femoral deficiency: evaluation by MR imaging. Pediatr Radiol. 42(1):50-6, 2012
                                                                                  6. Chomiak J et al: Cruciate ligaments in proximal femoral focal deficiency: arthroscopic assessment. J Pediatr Orthop. 32(1):21-8, 2012
                                                                                  7. Chomiak J et al: Computed tomographic angiography in proximal femoral focal deficiency. J Bone Joint Surg Am. 91(8):1954-64, 2009
                                                                                  8. Taylor BC et al: Distal focal femoral deficiency. J Pediatr Orthop. 29(6):576-80, 2009
                                                                                  9. Westberry DE et al: Proximal focal femoral deficiency (PFFD): management options and controversies. Hip Int. 19 Suppl 6:S18-25, 2009
                                                                                  10. Oh KY et al: Unilateral short femur--what does this mean? Report of 3 cases. Ultrasound Q. 24(2):89-92, 2008
                                                                                  11. Maldjian C et al: Efficacy of MRI in classifying proximal focal femoral deficiency. Skeletal Radiol. 36(3):215-20, 2007
                                                                                  12. Bernaerts A et al: Value of magnetic resonance imaging in early assessment of proximal femoral focal deficiency (PFFD). JBR-BTR. 89(6):325-7, 2006
                                                                                  13. Dora C et al: Morphologic characteristics of acetabular dysplasia in proximal femoral focal deficiency. J Pediatr Orthop B. 13(2):81-7, 2004
                                                                                  14. Court C et al: Radiological study of severe proximal femoral focal deficiency. J Pediatr Orthop. 17(4):520-4, 1997
                                                                                  15. Goddard NJ et al: Natural history and treatment of instability of the hip in proximal femoral focal deficiency. J Pediatr Orthop B. 4(2):145-9, 1995
                                                                                  16. Pirani S et al: Soft tissue anatomy of proximal femoral focal deficiency. J Pediatr Orthop. 11(5):563-70, 1991