An Extremely Rare, Atypical and Genetically-undetermined Form of Osteopetrosis

Introduction: Osteopetrosis is an uncommon skeletal disorder characterized by generalized sclerosis of bones due to defective osteoclast function. A wide variation in clinical severity of the disease has been observed. Radiographic features and genetic testing are commonly used to diagnose the condition. Case Presentation: In the present study, we present a case of an extremely rare, atypical and genetically- undetermined form of Osteopetrosis. Conclusion: This patient had some clinical and radiological features of craniometaphyseal dysplasia along with atypical radiological signs of osteopetrosis.