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Extremity Malformations
Proximal Focal Femoral Dysplasia
Proximal Focal Femoral Dysplasia
Roya Sohaey, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Proximal focal femoral dysplasia (PFFD)

              • Synonyms

                • Proximal femoral focal deficiency

              • Definitions

                • Dysplasia, hypoplasia, or aplasia involving proximal femur
                  • Primarily deformation of trochanteric part of femur
                  • Spectrum ranges from mild shortening to absent femur
                  • Acetabulum might also be involved

              IMAGING

              • General Features

                • Ultrasonographic Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Staging, Grading, & Classification

                          • Gross Pathologic & Surgical Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. Yakıştıran B et al: Fetal fibular hemimelia with focal femoral deficiency: a case report. Turk J Obstet Gynecol. 16(3):205-7, 2019
                                        2. Gerscovich EO et al: Fetal ultrasound: early diagnosis and natural evolution of proximal femoral focal deficiency. J Ultrason. 17(71):294-8, 2017
                                        3. 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
                                        4. Kudla MJ et al: Proximal femoral focal deficiency of the fetus - early 3D/4D prenatal ultrasound diagnosis. Med Ultrason. 18(3):397-9, 2016
                                        5. Bedoya MA et al: Common patterns of congenital lower extremity shortening: diagnosis, classification, and follow-up. Radiographics. 35(4):1191-207, 2015
                                        6. 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
                                        7. Doğer E et al: Unilateral isolated proximal femoral focal deficiency. Case Rep Obstet Gynecol. 2013:637904, 2013
                                        8. 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
                                        9. Biko DM et al: Proximal focal femoral deficiency: evaluation by MR imaging. Pediatr Radiol. 42(1):50-6, 2012
                                        10. Koenig JK et al: MR evaluation of femoral neck version and tibial torsion. Pediatr Radiol. 42(1):113-5, 2012
                                        11. Mailath-Pokorny M et al: Prenatal diagnosis of unilateral proximal femoral focal deficiency at 19 weeks' gestation: case report and review of the literature. Ultrasound Obstet Gynecol. 38(5):594-7, 2011
                                        12. Westberry DE et al: Proximal focal femoral deficiency (PFFD): management options and controversies. Hip Int. 19 Suppl 6:S18-25, 2009
                                        13. Oh KY et al: Unilateral short femur--what does this mean? Report of 3 cases. Ultrasound Q. 24(2):89-92, 2008
                                        14. Weisz B et al: Association of isolated short femur in the mid-trimester fetus with perinatal outcome. Ultrasound Obstet Gynecol. 31(5):512-6, 2008
                                        15. Paladini D et al: Diagnosis of femoral hypoplasia-unusual facies syndrome in the fetus. Ultrasound Obstet Gynecol. 30(3):354-8, 2007
                                        16. 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
                                        17. Aikten GT. Proximal femoral focal deficiency-definition, classification, and management. In: Proximal Femoral Focal Deficiency: A Congenital Anomaly. Washington DC: 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

                                            • Top Differential Diagnoses

                                              • Pathology

                                                • Clinical Issues

                                                  • Diagnostic Checklist

                                                    TERMINOLOGY

                                                    • Abbreviations

                                                      • Proximal focal femoral dysplasia (PFFD)

                                                    • Synonyms

                                                      • Proximal femoral focal deficiency

                                                    • Definitions

                                                      • Dysplasia, hypoplasia, or aplasia involving proximal femur
                                                        • Primarily deformation of trochanteric part of femur
                                                        • Spectrum ranges from mild shortening to absent femur
                                                        • Acetabulum might also be involved

                                                    IMAGING

                                                    • General Features

                                                      • Ultrasonographic Findings

                                                        • Imaging Recommendations

                                                          DIFFERENTIAL DIAGNOSIS

                                                            PATHOLOGY

                                                            • General Features

                                                              • Staging, Grading, & Classification

                                                                • Gross Pathologic & Surgical Features

                                                                  CLINICAL ISSUES

                                                                  • Presentation

                                                                    • Demographics

                                                                      • Natural History & Prognosis

                                                                        • Treatment

                                                                          DIAGNOSTIC CHECKLIST

                                                                          • Consider

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. Yakıştıran B et al: Fetal fibular hemimelia with focal femoral deficiency: a case report. Turk J Obstet Gynecol. 16(3):205-7, 2019
                                                                              2. Gerscovich EO et al: Fetal ultrasound: early diagnosis and natural evolution of proximal femoral focal deficiency. J Ultrason. 17(71):294-8, 2017
                                                                              3. 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
                                                                              4. Kudla MJ et al: Proximal femoral focal deficiency of the fetus - early 3D/4D prenatal ultrasound diagnosis. Med Ultrason. 18(3):397-9, 2016
                                                                              5. Bedoya MA et al: Common patterns of congenital lower extremity shortening: diagnosis, classification, and follow-up. Radiographics. 35(4):1191-207, 2015
                                                                              6. 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
                                                                              7. Doğer E et al: Unilateral isolated proximal femoral focal deficiency. Case Rep Obstet Gynecol. 2013:637904, 2013
                                                                              8. 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
                                                                              9. Biko DM et al: Proximal focal femoral deficiency: evaluation by MR imaging. Pediatr Radiol. 42(1):50-6, 2012
                                                                              10. Koenig JK et al: MR evaluation of femoral neck version and tibial torsion. Pediatr Radiol. 42(1):113-5, 2012
                                                                              11. Mailath-Pokorny M et al: Prenatal diagnosis of unilateral proximal femoral focal deficiency at 19 weeks' gestation: case report and review of the literature. Ultrasound Obstet Gynecol. 38(5):594-7, 2011
                                                                              12. Westberry DE et al: Proximal focal femoral deficiency (PFFD): management options and controversies. Hip Int. 19 Suppl 6:S18-25, 2009
                                                                              13. Oh KY et al: Unilateral short femur--what does this mean? Report of 3 cases. Ultrasound Q. 24(2):89-92, 2008
                                                                              14. Weisz B et al: Association of isolated short femur in the mid-trimester fetus with perinatal outcome. Ultrasound Obstet Gynecol. 31(5):512-6, 2008
                                                                              15. Paladini D et al: Diagnosis of femoral hypoplasia-unusual facies syndrome in the fetus. Ultrasound Obstet Gynecol. 30(3):354-8, 2007
                                                                              16. 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
                                                                              17. Aikten GT. Proximal femoral focal deficiency-definition, classification, and management. In: Proximal Femoral Focal Deficiency: A Congenital Anomaly. Washington DC: National Academy of Sciences. 1-22, 1969