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

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

Journal Name: Current Medical Imaging
Formerly: Current Medical Imaging Reviews

Volume 17 , Issue 8 , 2021


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Graphical Abstract:


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.

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Article Details

VOLUME: 17
ISSUE: 8
Year: 2021
Published on: 28 January, 2021
Page: [1036 - 1039]
Pages: 4
DOI: 10.2174/1573405617666210129111339
Price: $65

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