Proximal femoral focal deficiency

Case contributed by Heba Abdelmonem
Diagnosis almost certain

Presentation

Left lower limb deformity.

Patient Data

Age: 6 years
Gender: Female
This study is a stack
Coronal
T2
This study is a stack
Coronal
STIR
This study is a stack
Coronal
T1
This study is a stack
Axial
T2
This study is a stack
Axial
T1
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Info

Abnormally short left femur with diaphyseal broadening associated with multiple levels segmentation and pseudoarthrosis.

The femoral head, as well as the left acetabulum, are intact.

No evidence of connection between the femoral head and shaft.

Note the atrophy of the muscles on the left side.

Case Discussion

6 years old female patient with congenitally short left lower limb. MRI of the pelvis revealed abnormal shortening of the left femur with multiple levels segmentation. The femoral head, as well as acetabulum, are intact. Findings are consistent with proximal focal femoral deficiency (PFFD) type A.

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