An Extremely Rare, Atypical and Genetically-Undetermined Form of Osteopetrosis.

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 usually used to diagnose the condition. In the present study, we present a case of an extremely rare, atypical and genetically-undetermined form of Osteopetrosis. This patient had some clinical and radiological features of craniometaphyseal dysplasia along with atypical radiological signs of osteopetrosis.