Clinical examination of stone and bone disease

  Stone bone disease is also known as marble bone, primary brittle osteosclerosis, sclerosing proliferative bone disease and chalk-like bone. It is a rare disorder of bone development. It was first discovered by Albers-Schonberg (1904) and is also known as Albers-schonberg disease. The disease is characterized by the persistence of calcified cartilage, causing extensive osteosclerosis and, in severe cases, the closure of the greater marrow cavity, resulting in severe anemia.  1. The mild form, also known as benign type, is mostly seen in adolescents and adults and has a better prognosis. Patients may have varying degrees of anemia and cerebral nerve compression symptoms or no obvious symptoms in the early stage, and are often detected by X-ray examination in adulthood. There may be elevated blood acid phosphatase.  2. Heavy type, also known as malignant type, is common in infants and young children. Patients have early onset, rapid progression, mostly hematogenous, and the neurological and hematological systems are often involved. They show anemia, bleeding, and enlarged liver and spleen, which are due to systemic shrinkage or occlusion of the bone marrow cavity causing hematopoietic disorders.