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

Curr Med Imaging

Diagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.

Published: November 2021

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Article Abstract

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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Source
http://dx.doi.org/10.2174/1573405617666210129111339DOI Listing

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