Bone Abstracts

Objectives: Vitamin D dependent rickets type I (VDDR-I) is an autosomal recessive disorder with impaired activation of vitamin D, caused by mutations in CYP27B1. Characteristic clinical features are hypotonia, muscle weakness, growth failure, hypocalcemic seizures in early infancy, and radiographic findings of rickets. We aimed to describe the clinical and laboratory findings in a VDDR-1 case and to report a mutation in CYP27B1.Methods and results: The p...