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
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
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
Bedoya MA et al: Common patterns of congenital lower extremity shortening: diagnosis, classification, and follow-up. Radiographics. 35(4):1191-207, 2015
Bergère A et al: Imaging features of lower limb malformations above the foot. Diagn Interv Imaging. 96(9):901-14, 2015
Biko DM et al: Proximal focal femoral deficiency: evaluation by MR imaging. Pediatr Radiol. 42(1):50-6, 2012
Westberry DE et al: Proximal focal femoral deficiency (PFFD): management options and controversies. Hip Int. 19 Suppl 6:S18-25, 2009
Maldjian C et al: Efficacy of MRI in classifying proximal focal femoral deficiency. Skeletal Radiol. 36(3):215-20, 2007
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
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
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
Anton CG et al: Proximal femoral focal deficiency (PFFD): more than an abnormal hip. Semin Musculoskelet Radiol. 3(3):215-26, 1999
Fordham LA et al: Fibular hemimelia: more than just an absent bone. Semin Musculoskelet Radiol. 3(3):227-38, 1999
Court C et al: Radiological study of severe proximal femoral focal deficiency. J Pediatr Orthop. 17(4):520-4, 1997
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
Bryant DD 3rd et al: Proximal femoral focal deficiency: evaluation and management. Orthopedics. 14(7):775-84, 1991
Pirani S et al: Soft tissue anatomy of proximal femoral focal deficiency. J Pediatr Orthop. 11(5):563-70, 1991
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
Hillmann JS et al: Proximal femoral focal deficiency: radiologic analysis of 49 cases. Radiology. 165(3):769-73, 1987
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
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
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
Bedoya MA et al: Common patterns of congenital lower extremity shortening: diagnosis, classification, and follow-up. Radiographics. 35(4):1191-207, 2015
Bergère A et al: Imaging features of lower limb malformations above the foot. Diagn Interv Imaging. 96(9):901-14, 2015
Biko DM et al: Proximal focal femoral deficiency: evaluation by MR imaging. Pediatr Radiol. 42(1):50-6, 2012
Westberry DE et al: Proximal focal femoral deficiency (PFFD): management options and controversies. Hip Int. 19 Suppl 6:S18-25, 2009
Maldjian C et al: Efficacy of MRI in classifying proximal focal femoral deficiency. Skeletal Radiol. 36(3):215-20, 2007
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
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
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
Anton CG et al: Proximal femoral focal deficiency (PFFD): more than an abnormal hip. Semin Musculoskelet Radiol. 3(3):215-26, 1999
Fordham LA et al: Fibular hemimelia: more than just an absent bone. Semin Musculoskelet Radiol. 3(3):227-38, 1999
Court C et al: Radiological study of severe proximal femoral focal deficiency. J Pediatr Orthop. 17(4):520-4, 1997
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
Bryant DD 3rd et al: Proximal femoral focal deficiency: evaluation and management. Orthopedics. 14(7):775-84, 1991
Pirani S et al: Soft tissue anatomy of proximal femoral focal deficiency. J Pediatr Orthop. 11(5):563-70, 1991
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
Hillmann JS et al: Proximal femoral focal deficiency: radiologic analysis of 49 cases. Radiology. 165(3):769-73, 1987
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
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