(13, 14, 15, 16, 17) Their clinical and radiographic features of DSS resemble those attributable to SLC29A3 or TCIRG1 mutation, including fractures without severe extramedullary hematopoiesis or short stature.(13, 14, 15, 16, 17) Radiological features include metaphyseal and vertebral sclerosis with mildly under‐modeled long bones that may evolve, including diminishing metaphyseal sclerosis.(14) However, there is no prominent platyspondyly. Here, TCIRG1 is linked to Platyspondyly.