Vitamin D Dependent RicketsType ll : Late Onset Disease associated with Double Inlet Left Ventricle and Facial Dysmorphism.

ABSTRACT

Vitamin D dependent rickets type II is a rare autosomal recessive disorder. It is characterised by end organ resistance to 1,25 dihydroxy cholecalciferol. Patients present with early onset rickets, alopecia, severe hypocalcemia and secondary hyperparathyroidism. We report a 7 year old girl who presented with this disorder in association with congenital cyanotic heart disease and dysmorphic facies. Such an association has not been reported in literature.