We examined clinically and radiologically the knees of 46 patients (27 females and 19 males) with diastrophic dysplasia. The age of the patients varied from newborn to 38 years. A total of 18 patients was followed during their growth until adolescence. The knees of two legally aborted fetuses appeared on examination to be macroscopically normal and congruous. Excessive valgus deformity of the tibiofemoral weight-bearing angle with a mean of 14° was noted in infancy. Most of the patients had marked instability of the knees. The range of movement of the knee began to decrease before the age of five years. There were signs of early degeneration and deformation of the bony epiphyses before the age of six years. The patellofemoral joint was abnormal from an early age. A marked patella infera, often associated with a lateral position of the patella with bony fragmentation, was noted. The knee in diastrophic dysplasia is basically unstable, showing early deformation of the subchondral bone and degeneration of the joint.

We examined 50 patients with diastrophic dysplasia both clinically and radiologically. Two legally aborted fetuses were dissected. The mean age of the patients was 16.2 years (newborn to 38) and the mean follow-up was 11.4 years (3 months to 34 years).

The fetal hips and MRI of newborn infants showed congruity and no significant joint deformity. Flexion contracture of the hip became evident later in 93% and was progressive. The radiological appearance of the proximal femoral ossific nuclei was delayed and in 17% of males and 28% of females the ossific nuclei had not appeared by the age of 12 years.

Radiological measurements differed considerably from reference values and were related to the rapid and progressive restriction of rotational movement and the increase in flexion contracture. The typical findings were flattening and inferomedial bulking of the femoral head and a double-hump deformation. The changes in the hip led to secondary osteoarthritis before early middle age. We describe the clinical and radiological measurements which define the early degeneration of the joint.