ArticleEuropean journal of case reports in internal medicine2025
Autosomal Dominant Osteopetrosis - Identification of a New Mutation.
Article in European journal of case reports in internal medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Osteopetrosis comprises a group of rare skeletal dysplasias characterized by increased bone density and paradoxical bone fragility. Among its forms, autosomal dominant osteopetrosis (ADO) is most frequently associated with mutations in the Case report: We report three related individuals who exhibited increased bone density and pathognomonic radiographic appearances of "bone-within-bone" and "sandwich-vertebrae". Genetic testing identified a novel heterozygous Conclusion: This case report highlights the diagnostic importance of recognizing characteristic radiographic patterns and confirming them through molecular analysis, emphasizing the need for multidisciplinary follow-up and appropriate genetic counselling. LEARNING POINTS: Characteristic radiographic features such as "bone-within-bone" and "sandwich vertebrae" are highly suggestive of autosomal dominant osteopetrosis.
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