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Delayed Diagnosis of Osteogenesis Imperfecta: A Differential Diagnosis Guided by Competing Ocular Findings and a Lack of Family History

Osteogenesis imperfecta (OI) is an inherited connective tissue disorder with variable clinical manifestations involving many structures and organ systems, leading to characteristic presentations such as low bone mineral density (BMD), vertebral compression fractures, hearing loss, and blue sclerae....

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Detalles Bibliográficos
Autores principales: Nguyen, Eric B, Kim, Erica Y, Malwane, Michelle I, Trejo, Sergio, Cucalón-Calderón, José R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9271314/
https://www.ncbi.nlm.nih.gov/pubmed/35822142
http://dx.doi.org/10.7759/cureus.25822