The paradoxical coexistence of hypophosphatemic rickets and increased bone density in spine of a subject carrying a novel splice site mutation in PHEX

To the Editor:We reported a 46-year-old man presented with progressive pain in his left lower extremities for more than 5 years.Physical examination showed short stature,"O"-type bending in his lower extremities,and"penguin"gait.The family tree of the proband’s pedigree is shown in Figure 1A,and the X-rays of his skull are shown in Figure 1B.X-rays found increased bone mass in his spine[Figure 1C],and left femoral fracture with sclerosis at the fracture edge[Figure 1D and Figure 1E].Dual-energy X-ray absorptiometry(DEXA)scan measured in 2018 revealed increased bone mass in his spine[Supplementary Table 1,http://links.lww.com/CM9/A96].