Imaging features of lower limb malformations above the foot

Diagn Interv Imaging. 2015 Sep;96(9):901-14. doi: 10.1016/j.diii.2014.08.008. Epub 2015 Apr 24.


Lower limb malformations are generally isolated or sporadic events. However, they are sometimes associated with other anomalies of the bones and/or viscera in patients with constitutional syndromes or disorders of the skeleton. This paper reviews the main imaging features of these abnormalities, which generally exhibit a broad spectrum. This paper focuses on several different bone malformations: proximal focal femoral deficiency, congenital short femur and femoral duplication for the femur, tibial hemimelia (aplasia/hypoplasia of the tibia) and congenital bowing for the tibia, fibular hemimelia (aplasia/hypoplasia) for the fibula, and aplasia, hypoplasia and congenital dislocation for the patella.

Keywords: Congenital morphological abnormalities of the lower limb; Femur; Fibula; Patella; Tibia.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Adolescent
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Infant, Newborn
  • Lower Extremity Deformities, Congenital / diagnosis*
  • Lower Extremity Deformities, Congenital / genetics
  • Pregnancy
  • Radiography