Femoral facial syndrome

Case contributed by Dr Francis Fortin

Presentation

Known Pierre Robin sequence facial malformation. Abdominal scan for another reason well demonstrates the associated lower limb malformations.

Patient Data

Age: 30 years
Gender: Male

3D bone reconstructions from abdominal CT

CT

The right femoral bone is marked hypoplastic and is fused with the tibia. The left femoral head is hypoplastic. There is bilateral acetabular dysplasia, right greater than left. The hypoplastic right femur is dislocated from it's adjacent acetabulum.

MIP-generated X-ray of the pelvis

X-ray

This "radiograph" generated from a maximum intensity projection (MIP) rendering of the pelvic CT scan again shows the bilateral femoral hypoplasia, most notably on the right.

Case Discussion

Bilateral femoral hypoplasia, in the setting of a known Pierre Robin sequence facial malformation such as in this patient, suggests the diagnosis of femoral facial syndrome.

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