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
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.