A congenital, unilateral, fixed flexion deformity in a neonate was diagnosed as a congenital absence of the knee. A single cartilage mass, with fusion of the lower femoral and upper tibial ossification centres, was demonstrated by imaging studies. This condition has been reported in the literature only once before. Surgery on our patient, which was performed at the age of two years, consisted of separation of the fused cartilaginous anlage and gradual correction of the deformity using an Ilizarov frame.Congenital ankylosis of the knee is an extremely rare condition which causes a flexion deformity of the joint. Only one case has been previously reported in the literature. 1 We describe a two-yearold boy who was born with a rigid flexion deformity of his right knee. Radiographs of the knee demonstrated fusion of the lower femoral and upper tibial epiphyses. Surgical exploration revealed an absent tibiofemoral joint space with a single cartilaginous anlage.The aetiology of this type of malformation of the knee is unknown. Its appearance as an isolated, skeletal malformation raises the possibility of a focal embryonic defect. The estimated morphogenic stage during embryonic development may be that of the cavity appearance phase, O'Rahilly stage 22.
2A distal femoral extension osteotomy has been recommended as a method of correction of a flexion deformity. 1,3 We performed an osteotomy through the fused epiphyses followed by gradual correction of the deformity using an Ilizarov frame.
Case reportThe patient was born after a normal pregnancy and spontaneous delivery. He was the first-born child of young, unrelated parents. No abnormalities were detected in systematic pre-natal sonographic surveys. The birthweight was 3245 g, and there was no family history of musculoskeletal or neurological conditions. Physical examination after birth revealed bilateral clinodactyly, bilateral simian lines, retrognathia and an 80˚ fixed flexion deformity of the right knee. The right femur was 2 cm shorter than the left. The boy had normal psychomotor development and growth curves showed his weight and head circumference to be within the 40th percentile and body length within the 90th percentile. No chromosomal abnormalities were detected. The radiograph of his right lower limb suggested continuity between the distal femoral and proximal tibial secondary ossification centres, a feature that was confirmed by CT and MRI studies (Fig. 1). MRI of the brain and spine, as well as electrophysiological studies of the lower limbs, were normal.He underwent surgery at the age of two years and two months. Exploration of the knee confirmed the absence of joint space with a single cartilage anlage joining the femur and the tibia. The extensor mechanism was normal (Fig. 2). Osteotomy of the fused cartilaginous ossification centres was performed, the hamstring muscles were released and an Ilizarov apparatus applied. Distraction and extension continued uninterrupted for three months and two weeks until full extension was achieved. The frame was then c...