Bone Abstracts

Backround: Vitamin D dependent rickets type 1 (VDDR-1) is an autosomal recessive disorder caused by 1a hydroxylase enzyme deficiency, that leads to low or undetectable levels of 1,25 dihydroxyvitamin D despite normal levels of 25-hydroxyvitamin D levels. Additional laboratory findings include hypocalcemia and increased levels of parathyroid hormone. Clinically, it presents as early onset rickets and severe hypotonia.Presenting problem: A 6-year-old Cauca...