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X-ray examination at diagnosis in the female proband. a Skull in lateral view: the calvaria and the basal bones are thickened and sclerotic. b Distal end of femurs: irregular thickening and massive cortical sclerosis of the diaphysis. c Proximal ends and diaphyses of tibiae and fibulae: thickening and massive cortical sclerosis of the diaphysis. The medullary cavity of the tibiae was not completely visualized.
