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Home > West Medicine > Surgery > Orthopedics
百科

Osteopetrosis

骨外科

Common symptoms

颅内出血、耳聋、视力障碍、听力下降、斜视、骨硬化、颅内压增高、脱髓、眼球震颤

The pathology of disease

Osteopetrosis (marble bone disease) is dense sclerotic brittle bones from osteoclast dysfunction; anemia; cranial nerve compression; fractures.

Symptoms

Bone fractures; anemia; blindness/deafness from nerve compression; cranial nerve palsies

Causes

Inherited osteoclast dysfunction; carbonic anhydrase II deficiency.

Treatment

Bone marrow transplant (infantile); supportive; calcium/vitamin D management

Dept

Orthopedic / hematology / genetics.

Warm reminder: Health education reference only; seek care at regular hospital.