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
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author Miantti Ghellere Bonfim, Luana C.
S. Guerini, Isadora
G. Zambon, Marjorie
A. Lopes, Marcela
author_facet Miantti Ghellere Bonfim, Luana C.
S. Guerini, Isadora
G. Zambon, Marjorie
A. Lopes, Marcela
author_sort Miantti Ghellere Bonfim, Luana C.
collection PubMed
description 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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spelling pubmed-105018792023-09-16 Blue Sclerae and Differential Diagnosis in Chest Pain: A Case Report Miantti Ghellere Bonfim, Luana C. S. Guerini, Isadora G. Zambon, Marjorie A. Lopes, Marcela Cureus Genetics 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. Cureus 2023-08-15 /pmc/articles/PMC10501879/ /pubmed/37719560 http://dx.doi.org/10.7759/cureus.43542 Text en Copyright © 2023, Miantti Ghellere Bonfim et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Miantti Ghellere Bonfim, Luana C.
S. Guerini, Isadora
G. Zambon, Marjorie
A. Lopes, Marcela
Blue Sclerae and Differential Diagnosis in Chest Pain: A Case Report
title Blue Sclerae and Differential Diagnosis in Chest Pain: A Case Report
title_full Blue Sclerae and Differential Diagnosis in Chest Pain: A Case Report
title_fullStr Blue Sclerae and Differential Diagnosis in Chest Pain: A Case Report
title_full_unstemmed Blue Sclerae and Differential Diagnosis in Chest Pain: A Case Report
title_short Blue Sclerae and Differential Diagnosis in Chest Pain: A Case Report
title_sort blue sclerae and differential diagnosis in chest pain: a case report
topic Genetics
url 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
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