Osteogenesis Imperfecta: A Case Series and Literature Review.
Document Type
Article
Publication Date
1-17-2023
Abstract
Osteogenesis imperfecta (OI) is a hereditary disease of connective tissue characterized by the loss of bone density and mass, which increases the fragility of the bones, thus presenting multiple fractures throughout the years followed by bone deformity and articular instability. This condition has various clinical presentations. We present four cases of OI, one case with type I, two cases with type II, and one case with type III. The clinical diagnosis in most of the cases was clinical; only one of them was confirmed with genomic sequence. The treatment of these cases was based on medication, orthopedic surgery, and recovery and physical therapy. The evolution was torpid in these cases but with prolonged life expectancy despite the severity and type of OI. It is important to highlight that the patients did not have a neurocognitive compromise. Early diagnosis and multidisciplinary medical management are crucial in obtaining better outcomes for this disease, improving the quality of life, and avoiding complications.
Publication Title
Cureus
Volume
15
Issue
1
First Page
33864
Last Page
33864
Recommended Citation
Neri Morales, C., Silva Amaro, A., Cardona, J., Bendeck, J., Cifuentes Gaitan, K., Ferrer Valencia, V., Domínguez, M., Quevedo, M., Fernández, I., & Celis Regalado, L. (2023). Osteogenesis Imperfecta: A Case Series and Literature Review.. Cureus, 15 (1), 33864-33864. https://doi.org/https://doi.org/10.7759/cureus.33864