Malignant infantile osteopetrosis presenting as failure to thrive

Abstract

Osteopetrosis or marble bone disease is a heterogeneous group of hereditary disorders in which deficient or
altered function of osteoclasts results into defective resorption of bone with resultant sclerosis. We report a case
of infantile osteopetrosis who presented to us as failure to thrive, severe anemia and developmental delay. This
case report highlights the importance of this rare disease as a differential diagnosis in infants with failure to
thrive, to avoid the potentially treatable entity.