Proximal femoral focal deficiency is a congenital partial absence of the proximal end of the femur with shortening of the entire lower limb. The diagnosis and classification have been based mainly on plain radiograph findings. This method does not permit definite classification during the first year of life.
The incidence of proximal focal femoral deficiency is on the order of 1-2 per 100,000 live births 4.
The aetiology of this disorder is uncertain. When severe, the proximal femur, femoral head and neck, and acetabulum will be absent.
A number of classifications have been proposed, with the Aitken four class (A-D) and modified by Amstutz being the most commonly used; see classification of proximal focal femoral deficiency.
The role of MR imaging in patients with this condition is to help define the cartilaginous proximal femur and the presence or absence of a cartilaginous connection to the femoral head. Therapeutic decisions are based on the detection of a femoral head and the presence of a connection.
Also, the severity of coxa vara, if present, will influence treatment selection. The ability of GRE imaging to clearly depict cartilage is of particular value in this setting. Routine coronal and axial MR images may be adequate, however, oblique images may be useful in some patients.
Arthrography permits the presence or absence of a femoral head to be confirmed; it has been used as an adjunct.
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- 4. D'Ambrosio V, Pasquali G, Squarcella A et-al. Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings. J Clin Ultrasound. 2015; . doi:10.1002/jcu.22306 - Pubmed citation