Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Osteopetrosis

The symptom of osteopetrosis (marble bones) is characterized by generalized sclerosis and hardening of the bone and often accompanied by anemia, extra-medullar haematopoiesis, and splenomegaly.

Clinical Findings

Because bone is hard and stiff and lacks elasticity, fractures are common.

Update: June 23, 2016