An Extremely Rare, Atypical and Genetically-undetermined Form of Osteopetrosis
| Autor: | Marco Focaccia, Lea Bono, Cecilia Tetta, Paolo Spinnato, Eugenio Rimondi |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Pathology
medicine.medical_specialty medicine.diagnostic_test business.industry Osteoclasts Osteopetrosis Disease medicine.disease Bone and Bones Metabolic bone disease Radiography medicine.anatomical_structure Craniometaphyseal dysplasia Skeletal disorder Osteoclast medicine Humans Radiology Nuclear Medicine and imaging Clinical severity business Genetic testing |
| Zdroj: | Current Medical Imaging Formerly Current Medical Imaging Reviews. 17:1036-1039 |
| ISSN: | 1573-4056 |
| DOI: | 10.2174/1573405617666210129111339 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|