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Current Medical Imaging

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ISSN (Print): 1573-4056
ISSN (Online): 1875-6603

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Case Report

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

Author(s): Cecilia Tetta*, Marco Focaccia, Lea Bono, Eugenio Rimondi and Paolo Spinnato

Volume 17, Issue 8, 2021

Published on: 29 January, 2021

Page: [1036 - 1039] Pages: 4

DOI: 10.2174/1573405617666210129111339

Price: $65

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.

Keywords: Sclerosis, osteopetrosis, craniometaphyseal dysplasia, diagnostic imaging, x-rays, metabolic bone disease.

Graphical Abstract

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