Fig. 2

Radiographic findings of patient III-3. a Radiographic findings of the spine of patient III-3. The patient displayed platyspondyly (C3–C7), defects on the edge of the anterior vertebral bodies (L3–L5), and a slight shift of the vertebral axis. In addition, ovoid vertebral bodies, which are indicators of dysplasia, were observed in the CT images of the cervical spine. b Radiographic findings of the long bones of patient III-3. Bilateral humeri, ulnae, radii, femurs, and tibiofibulas were shortened. Bilateral femoral heads and necks, as well as the femoral head epiphyses and distal humeral epiphyses, were absent. The epiphyses of the upper humeri and distal tibias were dysplastic. The metaphyses of the proximal femurs and proximal humeri displayed a “dappling” appearance, resulting from the irregular intermingling of radiolucencies and radiodensities. The metaphyses in the proximal tibias were flared and irregular. Notably, “corner fracture” phenomena were observed in the right proximal humerus and bilateral femurs (arrows). c Radiographic findings of the pelvis of patient III-3. An irregular acetabular roof was observed