Osteopetrosis (Marble Bone Disease) | Causes, Symptoms, Diagnosis, Treatment

Osteopetrosis (Marble Bone Disease) | Causes, Symptoms, Diagnosis, Treatment

Osteopetrosis (also known as Marble Bone Disease) is a bone condition involving defective osteoclast functioning, leading to thickened and dense but fragile bones. There are multiple types of Osteopetrosis, including Infantile, Intermediate and Adult Onset, each of which differs in severity and symptomatology. In this lesson, we discuss the gene mutations that can cause osteopetrosis, the differences in symptoms between the different types, how it’s diagnosed and how it’s treated.

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JJ

REFERENCES
https://emedicine.medscape.com/article/123968-overview
https://www.ncbi.nlm.nih.gov/books/NBK557529/

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