Received an email today that contained two x-rays of little lady's right leg. With my very untrained eye it is obvious she is missing her fibula (the thinner of the two bones in the lower leg) and her tibia has a bow to it. She also is missing two of her toes (has the all important big toe, though). So Fibular Hemimelia (FH) is probably the culprit. What is FH and how is it treated/managed you ask?
Fibular Hemimelia or longitudinal fibular deficiency is "the congenital absence of the fibula and it is the most common congenital absence of long bone of the extremities." It is the shortening of the fibula at birth, or the complete lack thereof. There are a few different means to treat FH mostly dependent upon the percentage of difference between the two legs, as well as other factors. Lifts added to the sole of a shoe is one option as well as the possibility of a prosthetic for inside the shoe. Limb lengthening under certain circumstances (which is multiple surgeries over the course of many years) is possible as well as amputation and use of a prosthetic.
We sent the x-rays off to our IA doc at CHoP and wait for her to consult with their FH specialist to rule out another condition they were concerned about (but not too concerned as it has never presented itself with a foot anomaly like little lady has).
Hope to hear in the next couple of days what they think and will keep you posted.