CTICasesOsteopetrosis
Imaging findings
A chest radiograph and CT scan in a young patient demonstrate diffuse, symmetric, and extremely dense osteosclerosis affecting all visualized skeletal structures. There is also an expanded, dysmorphic appearance of the proximal humerus and the ribs, along with an associated narrow, slightly constricted appearance of the thoracic cage.
Key takeaways
Osteopetrosis (Albers-Schönberg disease) is a rare genetic disorder characterized by impaired osteoclastic bone resorption, resulting in abnormally dense, sclerotic, and brittle bones. Patients are at increased risk for pathologic fractures, anemia, and nephrolithiasis due to metabolic and calcium-phosphate abnormalities.
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