Blue Sclerae and Differential Diagnosis in Chest Pain: A Case Report

Osteogenesis imperfecta (OI) constitutes a complex connective tissue disorder extending beyond its hallmark bone fragility. This case report explores the intricate diagnostic journey involving an elderly patient with acute chest pain, blue sclerae, and multiple fractures. Despite a thorough cardiac...

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Detalles Bibliográficos
Autores principales: Miantti Ghellere Bonfim, Luana C., S. Guerini, Isadora, G. Zambon, Marjorie, A. Lopes, Marcela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10501879/
https://www.ncbi.nlm.nih.gov/pubmed/37719560
http://dx.doi.org/10.7759/cureus.43542
Descripción
Sumario:Osteogenesis imperfecta (OI) constitutes a complex connective tissue disorder extending beyond its hallmark bone fragility. This case report explores the intricate diagnostic journey involving an elderly patient with acute chest pain, blue sclerae, and multiple fractures. Despite a thorough cardiac evaluation yielding normal results, the complex medical history and phenotypic markers directed attention toward musculoskeletal factors, underlining the importance of comprehensive diagnostic approaches in hereditary conditions like OI.

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