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Published on: December 18, 2019
An Extremely Rare, Atypical and Genetically-undetermined Form of Osteopetrosis
Cecilia Tetta1, Marco Focaccia2, Lea Bono1
1Diagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
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.
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