Syndrome of osteoporosis with pseudoglioma

a 12 1/2-year-old boy with the rare autosomal recessive syndrome of osteoporosis with pseudoglioma is reported. Pertinent laboratory findings included osteoporotic lesions of the skeleton and calcification of the left lens. He was hypotonic and presented atrophic globes with opacities of the lenses. His psychomotor development was normal. Parental consanguinity is not excluded.