Osteoporosis-Pseudoglioma Syndrome, a Rare Entity

Abstract

Osteoporosis-pseudoglioma syndrome is a rare autosomal recessive disorder of severe juvenile osteoporosis and congenital blindness. This disease is characterized by intellectual disability, osteoporosis of bones, and eye abnormalities. It is usually diagnosed in early childhood, with affected children displaying early onset blindness, severe osteoporosis, short stature, and fractures. On plain radiographs, patients usually manifest severe thinning of bones, bowing of extremities, and spinal deformities.