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

(E-pub Ahead of Print)

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

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


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Abstract:

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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Article Details

(E-pub Ahead of Print)
DOI: 10.2174/1573405617666210129111339
Price: $95

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