Background Osteopetrosis is a rare, inherited, bone disorder, characterized by osteosclerosis, obliteration of the medullary cavity and calcified cartilage. The autosomal dominant form is ...

Autosomal recessive osteopetrosis was diagnosed in patient 3 at 2.5 months of age, at which time hepatosplenomegaly and optic atrophy were noted. He survives following a matched related BMT with ...