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.
Keywords: Sclerosis, Osteopetrosis, Craniometaphyseal dysplasia, Diagnostic imaging, X-rays, Metabolic bone disease
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