Objective

The femur aplasia is a congenital developmental defect of the femur often associated with malformations of the pelvis and lower limb. There are all intermediaries between the short femur and vestigial femoral. The total femur absence (agenesis) is rare. We report a case of a child followed in our Physical Medicine Department for proximal bilateral femoral agenesis.

Observations

This is M.S., a 5 years old child, addressed for a waddling gait and a deformation of the trunk. He is issued from a consanguineous marriage. His mother, 45 years old, diabetic under oral antidiabetic agents with notion of non-switch to insulin treatment at the start of pregnancy. The psychomotor development was normal except for a delay in walking (around the age of 2 years).

Clinical examination found a small height (88 cm) and a weight of 23 kg.

On spine examination, the occipital axis is diverted to the right with a left small dorsal gibbosity and lumbar lordosis. He also had an unequal length of lower limbs of 1 cm from the right side.

Moreover, the child had bilateral testicular agenesis confirmed by ultrasound.

The radiological assessment concluded to agenesis of the two femurs and absence of scoliosis. The patient benefited from functional rehabilitation sessions while the surgery was not indicated.

Discussion/Conclusion

Maternal diabetes is known to have teratogenic effects such as heart defects, kidney abnormalities but also femoral agenesis. There are few cases reported in the literature, where the originality of our case.