AI Article Synopsis
- * Diagnosis of osteopetrosis involves genetic testing and imaging techniques like X-rays and CT scans to confirm the condition.
- * A case study is presented of a 13-year-old boy in Morocco whose osteopetrosis was identified through unusual symptoms and confirmed via CT imaging, highlighting challenges in accessing medical care.
Article Abstract
Osteopetrosis, also known as the disease of marbled bones, refers to a group of constitutional bone diseases resulting from a defect in bone metabolism. This condition is characterized by its manifestation, most often at a young age, and is typically revealed by its complications, primarily fractures. Diagnosis is currently confirmed through genetics but also relies on imaging such as standard radiography and computed tomography. We report the case of a child, aged 13 years, presenting with osteopetrosis revealed by atypical symptoms, confirmed by computed tomography imaging mainly in our country in Morocco where access to care is sometimes difficult for some patients.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418099 | PMC |
| http://dx.doi.org/10.1016/j.radcr.2024.08.130 | DOI Listing |
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