Fig. 1

Radiological images of the patient. Radiographic images show thickening of the calvaria (a); metaphyseal flaring of the distal humerus (b); mild kyphosis (c); and lack of femoral head ossification, deformity of the femoral neck, and distal femoral and proximal tibial epiphyseal ossification centers (d). Reformatted computed tomographic scans of the cervical spine show hypoplasia of dens and separation of the anterior atlas arch (e), as well as abnormal ossification at the spinous process of the axis (f)