Proximal Femoral Focal Deficiency Differential Diagnoses

Updated: Nov 01, 2022
  • Author: Amit Kumar Agarwal, MBBS, MS(Orth), DNB(Orth), MNAMS, MCh(Orth), MIMSA, Dip SICOT(Belg); Chief Editor: William L Jaffe, MD  more...
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Diagnostic Considerations

Congenital short femur (CSF) is one of the differentials of proximal femoral focal deficiency (PFFD). CSF is characterized by generalized hypoplasia of the femur. Clinical presentation resembles that of PFFD in the early stages. One way of clinically distinguishing CSF from PFFD is to extend the foot as far as possible as compared with the normal side. If it is beyond the knee, then the patient has a decent amount of femoral length. Flexion of the hip and knee, if present, is reversible, in contrast to PFFD. If the hip joint is also stable, the chances of CSF are high. [3]

Differential diagnosis of PFFD includes the following:

  • Femur-fibula-ulna complex – Confirmation of shortening of the femur, fibula, and tibia
  • Femoral dysplasia–unusual facies syndrome, also known as femoral facial syndrome – Confirmation of bilateral femoral dysplasia, micrognathia, palatoschisis, shortened nose, lengthened medial cleft, thin upper lip, upper-limb movement restriction, and (rarely) genitourinary congenital disorders
  • Al-Awadi–Raas-Rothschild syndrome, also known as limb/pelvis–hypoplasia/aplasia syndrome – Confirmation of complex upper- and lower- limb malformations