Radiological diagnosis of infantile osteopetrosis in a 1-year-old with macrocephaly and jaundice
Infantile osteopetrosis is a rare, severe genetic disorder marked by defective osteoclast function, leading to abnormally dense but fragile bones. Early diagnosis through radiologic imaging is essential for proper management, as it often reveals hallmark features such as diffuse skeletal sclerosis,...
| Published in: | Radiology Case Reports |
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| Main Authors: | , , , , , , |
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-09-01
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| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043325004819 |
