Osteogenesis imperfecta type XV: A clinical case

2025

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DOI 10.52889/1684-9280-2025-2-76-60-66
Data confidence 85 high
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Abstract

The article presents a clinical case of a rare form of osteogenesis imperfecta (type XV) identified in a newborn girl. The key clinical manifestations, genetic aspects of the disease and approaches to diagnostics are described. The results of laboratory and instrumental studies confirming the diagnosis are presented. Therapeutic strategies, including bisphosphonate therapy and the prospects for targeted drug use, are discussed. The work emphasizes the importance of early diagnosis and a multidisciplinary approach to optimize the treatment of patients with this condition.Keywords: osteogenesis imperfecta type XV, rare genetic disorders, WNT1 gene mutation, bisphosphonate therapy, targeted therapy.