Congenital anomalies in newborns can be extremely distressing for the parents. This case report discusses the bilateral absence of femur, a rare congenital abnormality in a two-year-old. She presented with the complaint of short stature. She was delivered via cesarean section at term to a thirty-eight-year-old mother. The baby instantly cried at birth. Furthermore, the three trimesters of pregnancy were uncomplicated. While the mother was a type two diabetes mellitus patient, the insulin injections kept her blood glucose levels normal throughout the pregnancy.
The mother was not exposed to any teratogen. Moreover, the mother did not have a consanguineous marriage and the patient’s siblings were completely normal.
The physical examination for bilateral absence of femur
The patient appeared mentally well oriented. Her upper limb was normal structurally and functionally. The patient could stand on her own but needed aid while walking. In addition, she appeared shorter than the children of the same age. There was no length discrepancy. Furthermore, the examination revealed the absence of both her thigh and knee joints.
Plain X-ray of pelvis and femur showed absence of both femurs, shallow acetabula and uncommon form of tibias and fibulas.
The conclusion
Bilateral congenital absence of femur is a severe form of congenital absence of femur. It can occur singly, or it can occur with clubfoot, cardiac defects, fibular hemimelia.
One of the causes of the abnormality is genetics and other causes include the effect of teratogen. Pregestational diabetes is a strong risk factor despite proper control. The incidence of femur absence is three to four folds higher in diabetic mothers as compared to non-diabetic mothers. Furthermore, it is higher in females as compared to males.
All such cases need proper evaluation, management and therapy that helps the patient and her parents to accept her condition to live a good life.
