Fig. 2
The clinical and radiological features of patients in two affected families. The legs of proband in family 1 exhibited evident “O” shape (a) and bowing of the femurs and widening and irregularity of the growth plates of distal femur (white arrows) are shown in X-ray image (b). Moreover, the X-ray image of III:1 in family 1 also presented bowing of the femurs, deformity of growth plates and hips (white arrows) (c). In family 2, the proband showed deformity of the lower extremities (d) and similar radiological presentation (white arrows) (e) to proband in family 1. However, the proband’s mother in family 2 exhibited normal appearance in X-ray image (f)