Marble bone disease is?
Correct Answer: Osteopetrosis
Description: Osteopetrosis/ marble bone disease: * Bone within bone appearance on xray (increased bone density) * Due to mutation in CLCN7 gene. * Leads to defective bone resorption * C/F: Neurological problems present, Deafness, Macrocephaly , hepatosplenomegaly, Pancytopenia * Investigation: Low phosphorus and calcium levels with normal Vit D levels and elevated PTH.
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