Radiological signs in osteopetrosis

Osteopetrosis, or marble bone disease, is a rare genetic metabolic disease initially described by Albers-Schönberg in 1904. Osteopetrosis includes clinically heterogeneous group of conditions characterized increased density due to defect resorption osteoclasts. The osteoclasto-genesis as well the osteoclastic activity may be distorted. Clinical symptoms osteopetrosis vary greatly their presentation and severity spectrum ranges from neonatal onset with life-threatening complications incidental findings on radiographs. Diagnosis based clinical radiographic evaluation, confirmed biopsy testing. Treatment depends requires multidisciplinary team approach.