Bone Abstracts

Background: Hereditary pseudovitamin D-deficiency rickets, also known as vitamin D-dependent rickets type I, with an autosomal recessive inheritance, is caused by mutations in CYP27B1. It is characterized clinically by hypotonia, weakness, growth failure, and hypocalcemic seizures in early infancy. The patients also have hypocalcemia, radiologic findings typical of rickets, elevated serum parathyroid hormone concentrations, and generalized aminoaciduria. We present follow-up o...