Unilateral proximal focal femoral deficiency,fibular aplasia,tibial campomelia and oligosyndactyly in an Egyptian child - Probable FFU syndrome

We report a fifteen month old Egyptian male child,the third in order of birth of healthy non consanguineous parents,who has normal mentality,normal upper limbs and left lower limb. The right lower limb has short femur,and tibia with anterior bowing,and an overlying skin dimple. The right foot has also oligosyndactyly (three toes),and the foot is in vulgus position. There is limited abduction at the hip joint,full flexion and extension at the knee,limited dorsiflexion and plantar flexion at the ankle joint. The X-ray of the lower limb and pelvis shows proximal focal femoral deficiency,absent right fibula with shortening of the right tibia and anterior bowing of its distal third. The acetabulum is shallow. He has a family history of congenital cyanotic heart disease. Our patient represents most probably the first case of femur fibula ulna syndrome (FFU) in Egypt with unilateral right leg affection. We suggest that the condition in our patient may be due to a rare autosomal dominant mutation with possible gonadal mosaicism and with variable expression in the family,as limb anomaly in one child and cyanotic congenital heart disease in another child. © 2014.