Figure 2.

Representative X-rays of Pt 2A, Pt 3, Pt 4, showing the diffusely increased bone density. (A) Pt 2A at 2 years, notice the increased vertebra and rib density as well as typical rickets-like nodular costochondral junctions at the end of ribs; (B) Pt 3 at 6 months, radiograph of the legs show bone sclerosis along with fraying and splaying of metaphyses, growth plate widening and diffuse periosteal reaction (arrows indicated); C, D, E, F, G are pictures of Pt 4. (C) The pelvic bones, as well as femoral head, proximal femora demonstrate high bone density; (D) Lateral cephalogram indicates sclerotic skull base and cervical vertebra; (E) Unlike the typical “rugger-jersey appearance” of CLCN7-dependent ADO type, this standard radiograph of the spine (anteroposterior) showing the homogeneous sclerosis of the vertebra; (F) Broken bone and external fixation when Pt 4 was 16 years old; (G) The obliteration of marrow cavity and bone deformity of right distal femur resulting from non-perfect healing and fracture remodeling.