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Proximal Focal Femoral Deficiency
Christopher G. Anton, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Abbreviations

            • Proximal femoral focal deficiency (PFFD)
          • Definitions

            • Malformation in which complete growth & development of upper femur fails to occur
            • Spectrum ranging from mild shortening & varus deformity of otherwise normal femur to absence of all but distal femur
            • Accompanied by varying degrees of acetabular dysplasia, thigh muscular hypoplasia, fibular & foot maldevelopment, & shortened lower extremity length

          IMAGING

          • General Features

            • Radiographic Findings

              • MR Findings

                • Ultrasonographic Findings

                  • Other Modality Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Staging, Grading, & Classification

                            • Gross Pathologic & Surgical Features

                              • Microscopic Features

                                CLINICAL ISSUES

                                • Presentation

                                  • Demographics

                                    • Treatment

                                      DIAGNOSTIC CHECKLIST

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. Uduma FU et al: Proximal femoral focal deficiency - a rare congenital entity: two case reports and a review of the literature. J Med Case Rep. 14(1):27, 2020
                                        2. D'Ambrosio V et al: Prenatal diagnosis of proximal focal femoral deficiency: literature review of prenatal sonographic findings. J Clin Ultrasound. 44(4):252-9, 2016
                                        3. Bedoya MA et al: Common patterns of congenital lower extremity shortening: diagnosis, classification, and follow-up. Radiographics. 35(4):1191-207, 2015
                                        4. Bergère A et al: Imaging features of lower limb malformations above the foot. Diagn Interv Imaging. 96(9):901-14, 2015
                                        5. Biko DM et al: Proximal focal femoral deficiency: evaluation by MR imaging. Pediatr Radiol. 42(1):50-6, 2012
                                        6. Westberry DE et al: Proximal focal femoral deficiency (PFFD): management options and controversies. Hip Int. 19 Suppl 6:S18-25, 2009
                                        7. Maldjian C et al: Efficacy of MRI in classifying proximal focal femoral deficiency. Skeletal Radiol. 36(3):215-20, 2007
                                        8. 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
                                        9. Kayser R et al: Proximal focal femoral deficiency--a rare entity in the sonographic differential diagnosis of developmental dysplasia of the hip. J Pediatr. 146(1):141, 2005
                                        10. Kayser R et al: Proximal focal femoral deficiency -- a rare entity in the sonographic differential diagnosis of developmental dysplasia of the hip,. Ultraschall Med. 26(5):379-84, 2005
                                        11. Anton CG et al: Proximal femoral focal deficiency (PFFD): more than an abnormal hip. Semin Musculoskelet Radiol. 3(3):215-26, 1999
                                        12. Fordham LA et al: Fibular hemimelia: more than just an absent bone. Semin Musculoskelet Radiol. 3(3):227-38, 1999
                                        13. Court C et al: Radiological study of severe proximal femoral focal deficiency. J Pediatr Orthop. 17(4):520-4, 1997
                                        14. 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
                                        15. Bryant DD 3rd et al: Proximal femoral focal deficiency: evaluation and management. Orthopedics. 14(7):775-84, 1991
                                        16. Pirani S et al: Soft tissue anatomy of proximal femoral focal deficiency. J Pediatr Orthop. 11(5):563-70, 1991
                                        17. Boden SD et al: Proximal femoral focal deficiency. Evidence for a defect in proliferation and maturation of chondrocytes. J Bone Joint Surg Am. 71(8):1119-29, 1989
                                        18. Hillmann JS et al: Proximal femoral focal deficiency: radiologic analysis of 49 cases. Radiology. 165(3):769-73, 1987
                                        19. Aitken GT: Proximal femoral focal deficiency: definition, classification, & management. In Aitken GT: Proximal Femoral Focal Deficiency, A Congenital Anomaly: A Symposium. Washington D.C.: National Academy of Sciences. 1-22, 1969
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Pathology

                                              • Clinical Issues

                                                TERMINOLOGY

                                                • Abbreviations

                                                  • Proximal femoral focal deficiency (PFFD)
                                                • Definitions

                                                  • Malformation in which complete growth & development of upper femur fails to occur
                                                  • Spectrum ranging from mild shortening & varus deformity of otherwise normal femur to absence of all but distal femur
                                                  • Accompanied by varying degrees of acetabular dysplasia, thigh muscular hypoplasia, fibular & foot maldevelopment, & shortened lower extremity length

                                                IMAGING

                                                • General Features

                                                  • Radiographic Findings

                                                    • MR Findings

                                                      • Ultrasonographic Findings

                                                        • Other Modality Findings

                                                          • Imaging Recommendations

                                                            DIFFERENTIAL DIAGNOSIS

                                                              PATHOLOGY

                                                              • General Features

                                                                • Staging, Grading, & Classification

                                                                  • Gross Pathologic & Surgical Features

                                                                    • Microscopic Features

                                                                      CLINICAL ISSUES

                                                                      • Presentation

                                                                        • Demographics

                                                                          • Treatment

                                                                            DIAGNOSTIC CHECKLIST

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. Uduma FU et al: Proximal femoral focal deficiency - a rare congenital entity: two case reports and a review of the literature. J Med Case Rep. 14(1):27, 2020
                                                                              2. D'Ambrosio V et al: Prenatal diagnosis of proximal focal femoral deficiency: literature review of prenatal sonographic findings. J Clin Ultrasound. 44(4):252-9, 2016
                                                                              3. Bedoya MA et al: Common patterns of congenital lower extremity shortening: diagnosis, classification, and follow-up. Radiographics. 35(4):1191-207, 2015
                                                                              4. Bergère A et al: Imaging features of lower limb malformations above the foot. Diagn Interv Imaging. 96(9):901-14, 2015
                                                                              5. Biko DM et al: Proximal focal femoral deficiency: evaluation by MR imaging. Pediatr Radiol. 42(1):50-6, 2012
                                                                              6. Westberry DE et al: Proximal focal femoral deficiency (PFFD): management options and controversies. Hip Int. 19 Suppl 6:S18-25, 2009
                                                                              7. Maldjian C et al: Efficacy of MRI in classifying proximal focal femoral deficiency. Skeletal Radiol. 36(3):215-20, 2007
                                                                              8. 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
                                                                              9. Kayser R et al: Proximal focal femoral deficiency--a rare entity in the sonographic differential diagnosis of developmental dysplasia of the hip. J Pediatr. 146(1):141, 2005
                                                                              10. Kayser R et al: Proximal focal femoral deficiency -- a rare entity in the sonographic differential diagnosis of developmental dysplasia of the hip,. Ultraschall Med. 26(5):379-84, 2005
                                                                              11. Anton CG et al: Proximal femoral focal deficiency (PFFD): more than an abnormal hip. Semin Musculoskelet Radiol. 3(3):215-26, 1999
                                                                              12. Fordham LA et al: Fibular hemimelia: more than just an absent bone. Semin Musculoskelet Radiol. 3(3):227-38, 1999
                                                                              13. Court C et al: Radiological study of severe proximal femoral focal deficiency. J Pediatr Orthop. 17(4):520-4, 1997
                                                                              14. 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
                                                                              15. Bryant DD 3rd et al: Proximal femoral focal deficiency: evaluation and management. Orthopedics. 14(7):775-84, 1991
                                                                              16. Pirani S et al: Soft tissue anatomy of proximal femoral focal deficiency. J Pediatr Orthop. 11(5):563-70, 1991
                                                                              17. Boden SD et al: Proximal femoral focal deficiency. Evidence for a defect in proliferation and maturation of chondrocytes. J Bone Joint Surg Am. 71(8):1119-29, 1989
                                                                              18. Hillmann JS et al: Proximal femoral focal deficiency: radiologic analysis of 49 cases. Radiology. 165(3):769-73, 1987
                                                                              19. Aitken GT: Proximal femoral focal deficiency: definition, classification, & management. In Aitken GT: Proximal Femoral Focal Deficiency, A Congenital Anomaly: A Symposium. Washington D.C.: National Academy of Sciences. 1-22, 1969