Proximal Femoral Focal Deficiency Clinical Presentation

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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History and Physical Examination

The clinical appearance of proximal femoral focal deficiency (PFFD) is not subtle, and the condition therefore is easily recognized. The femur is shortened, flexed, abducted, and externally rotated. [7, 9, 14] Gillespie noted that in his patients, the hips were never normal and the knees were dysfunctional. [3, 15] Flexion contractures of the hip and knee are also present.

The bulbous proximal thigh quickly tapers to the knee. Because of the short femur and bulbous thigh, examination of the hip can be difficult. As a result of hip instability, pistoning may be present. The knee is uniformly unstable in an anteroposterior plane secondary to absent cruciate ligaments. Additionally, generalized knee hypoplasia has been reported. [3]

A high incidence of fibular deficiency and valgus feet is associated with PFFD. [9] Fibular deficiencies are found in as many as 70-80% of persons with PFFD. Approximately 50% of patients with PFFD have other limb anomalies. [16] However, Aitken reported almost a 70% incidence of other anomalies. [17]  Cleft palate, clubfoot, congenital heart defects, and spinal anomalies, though rare, occur as well. PFFD is bilateral in 10-15% of cases. [10]  Patients with bilateral PFFD can present with upper-extremity involvement. [18]