Case report: vitamin D‐dependent rickets type 1 caused by a novel CYP 27B1 mutation

Abstract

Vitamin D‐dependent rickets type 1 VDDR ‐1 is a recessive inherited disorder with impaired activation of vitamin D, caused by mutations in CYP 27B1 . We present long‐time follow‐up of a case with a novel mutation including high‐resolution peripheral quantitative computed tomography of the bone. Adequate treatment resulted in a normalized phenotype.