hrp0082p3-d1-660 | Bone | ESPE2014

Normal Serum Calcium Levels and Vitamin-D Dependent Rickets Type 2 (VDDR-II): a Novel Vitamin D Receptor Mutation

Goksen Damla , Ozen Samim , Kitanaka Sachiko , Isojima Tsuyoshi , Cogulu Ozgur , Darcan Sukran

Background: VDDR-II, is an autosomal recessive disorder characterized by the early onset of rickets with hypocalcemia, secondary hyperparathyroidism and hypophosphatemia and is caused by mutations in the vitamin D receptor (VDR) gene.Objective and hypotheses: 2 years old Turkish girl first offspring of consanguineous parents admitted to the hospital for the evaluation of total alopecia and bilaterally genu varum deformity. She was born with normal pilosi...