Femoral Focal Deficiency: A Rare Case Report.

ABSTRACT

Proximal focal femoral deficiency is an uncommon congenital deformity characterized by defective morphogenesis of the proximal femur resulting in shortening of the affected limb. Incidence being 1/50000 to 1/200,000 populations. The etiology is unknown and idiopathic. Often the diagnosis is made by radiological evaluation, which helps in identifying and evaluation of associated limb anomalies. When in doubt magnetic resonance imaging help to find out whether the cartilaginous femoral head is present or not. Usually a disorder is unilateral, but bilateral involvement is seen rarely. May be associated with other anomalies like cleft palate, spinal anomalies, and congenital heart defects. Treatment goals being satisfactory ambulation and specific treatment depending on the age of presentation and severity of dysplasia.