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
Yakıştıran B et al: Fetal fibular hemimelia with focal femoral deficiency: a case report. Turk J Obstet Gynecol. 16(3):205-7, 2019
Gerscovich EO et al: Fetal ultrasound: early diagnosis and natural evolution of proximal femoral focal deficiency. J Ultrason. 17(71):294-8, 2017
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
Kudla MJ et al: Proximal femoral focal deficiency of the fetus - early 3D/4D prenatal ultrasound diagnosis. Med Ultrason. 18(3):397-9, 2016
Bedoya MA et al: Common patterns of congenital lower extremity shortening: diagnosis, classification, and follow-up. Radiographics. 35(4):1191-207, 2015
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
Doğer E et al: Unilateral isolated proximal femoral focal deficiency. Case Rep Obstet Gynecol. 2013:637904, 2013
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
Biko DM et al: Proximal focal femoral deficiency: evaluation by MR imaging. Pediatr Radiol. 42(1):50-6, 2012
Koenig JK et al: MR evaluation of femoral neck version and tibial torsion. Pediatr Radiol. 42(1):113-5, 2012
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
Westberry DE et al: Proximal focal femoral deficiency (PFFD): management options and controversies. Hip Int. 19 Suppl 6:S18-25, 2009
Oh KY et al: Unilateral short femur--what does this mean? Report of 3 cases. Ultrasound Q. 24(2):89-92, 2008
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
Paladini D et al: Diagnosis of femoral hypoplasia-unusual facies syndrome in the fetus. Ultrasound Obstet Gynecol. 30(3):354-8, 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
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
Yakıştıran B et al: Fetal fibular hemimelia with focal femoral deficiency: a case report. Turk J Obstet Gynecol. 16(3):205-7, 2019
Gerscovich EO et al: Fetal ultrasound: early diagnosis and natural evolution of proximal femoral focal deficiency. J Ultrason. 17(71):294-8, 2017
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
Kudla MJ et al: Proximal femoral focal deficiency of the fetus - early 3D/4D prenatal ultrasound diagnosis. Med Ultrason. 18(3):397-9, 2016
Bedoya MA et al: Common patterns of congenital lower extremity shortening: diagnosis, classification, and follow-up. Radiographics. 35(4):1191-207, 2015
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
Doğer E et al: Unilateral isolated proximal femoral focal deficiency. Case Rep Obstet Gynecol. 2013:637904, 2013
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
Biko DM et al: Proximal focal femoral deficiency: evaluation by MR imaging. Pediatr Radiol. 42(1):50-6, 2012
Koenig JK et al: MR evaluation of femoral neck version and tibial torsion. Pediatr Radiol. 42(1):113-5, 2012
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
Westberry DE et al: Proximal focal femoral deficiency (PFFD): management options and controversies. Hip Int. 19 Suppl 6:S18-25, 2009
Oh KY et al: Unilateral short femur--what does this mean? Report of 3 cases. Ultrasound Q. 24(2):89-92, 2008
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
Paladini D et al: Diagnosis of femoral hypoplasia-unusual facies syndrome in the fetus. Ultrasound Obstet Gynecol. 30(3):354-8, 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
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
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