ESPE Abstracts

Background: Vitamin-D-dependent rickets 1A (VDDR-1A) is a extremely rare, autosomic recessive genetic form of rickets caused by a defect in vitamin D 1α-hydroxylase enzyme which leads to low levels of 1,25-(OH) vitamin D.Herein, we report two Moroccan sisters R.E. and N.E. (respectively 3 and 15 months old), born from consanguineous parents, who presented with psychomotor retardation and failure to thrive.<str...