A case of atelosteogenesis type III with bladder stone and proteinuria

Atelosteogenesis is a chondrodysplasia characterized by severe short-limbed dwarfism with multi-joint dislocation and specific facial features caused by mutations in the gene encoding filamin B. We report a case of atelosteogenesis type III with a large bladder stone and proteinuria. He had hematuria at age 3 years, which was found to be due to kidney stones and hypercalciuria. Hypercalciuria was thought to be due to excessive intake of protein...