Figure 2

Figure 2

Radiographic features associated with the R718W mutation. (A) and (B), subject III-3 at age seven years; (C) and (D), subject III-5 at age 14 years; (E), subject III-1 at age 11½ years. Hands: (A) Skeletal age is mildly delayed (five to six years) and the shape of the carpal bones is edgy and not rounded. (C) Phalangeal maturation is adequate for this postpubertal girl; the carpal bones are smaller than normal. Pelvis: (B) Both the femoral capital epiphyses and the greater trochanters are slightly smaller than usual but regular in shape. (D) The femoral heads are markedly smaller than normal and their shape is mildly irregular. The acetabular roof shows the beginning of degenerative changes. Pelvic shape is unremarkable in both (B) and (D). Knee: (E) The lateral knee film shows marked irregularities of the epiphyseal contours, wedging of the metaphyses, and a small patella with an accessory cranial ossification centre. This lateral view corresponds to the second AP view in fig 3. A remarkably similar radiograph has been published in association with collagen IX associated multiple epiphyseal dysplasia (Lohiniva et al,14; see fig 3 in that report).