Diagnostic Challenges in Bone Fragility: Osteogenesis Imperfecta Case Series
Osteogenesis imperfecta (OI) is a rare hereditary connective tissue disorder. Diagnosis is typically clinical; genetic testing can contribute. <b>Objectives</b>: We are presenting a case series of type I OI in Romanian patients, showcasing the difficulties in diagnostic and case manageme...
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MDPI AG
2025-04-01
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| author | Andrei Costache Anca-Lelia Riza Mihaela Popescu Rebecca-Cristiana Șerban Andreea-Mădălina Mituț-Velișcu Ioana Streață |
| author_facet | Andrei Costache Anca-Lelia Riza Mihaela Popescu Rebecca-Cristiana Șerban Andreea-Mădălina Mituț-Velișcu Ioana Streață |
| author_sort | Andrei Costache |
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| description | Osteogenesis imperfecta (OI) is a rare hereditary connective tissue disorder. Diagnosis is typically clinical; genetic testing can contribute. <b>Objectives</b>: We are presenting a case series of type I OI in Romanian patients, showcasing the difficulties in diagnostic and case management in pediatric and adult cases. <b>Methods</b>: Nine patients were referred to the Regional Centre for Medical Genetics (CRGM), Dolj, Craiova, between 2021 and 2024. Genetic testing was conducted using the commercially available kit Illumina<sup>®</sup> TruSight™ One. <b>Results</b>: Most of the patients showed blue sclerae, significant fracture history, and reduced stature. In our case series, the genetic variants for seven of the cases identified are primarily in the <i>COL1A1</i> and <i>COL1A2</i> genes. Our study reveals significant clinical variability among patients, even among those with identical genetic variants. This emphasizes the importance of tailored surgical and rehabilitation programs to improve the quality of life for these patients. <b>Conclusions</b>: Our study contributes to the genetic landscape of OI. Future research should aim to include larger, more diverse cohorts and incorporate advanced genetic analysis techniques to identify additional genetic variants and mechanisms involved in OI. |
| format | Article |
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| institution | OA Journals |
| issn | 2227-9059 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | MDPI AG |
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| spelling | doaj-art-4fc3b61ca2924189845fc880022efcbd2025-08-20T02:17:20ZengMDPI AGBiomedicines2227-90592025-04-0113486510.3390/biomedicines13040865Diagnostic Challenges in Bone Fragility: Osteogenesis Imperfecta Case SeriesAndrei Costache0Anca-Lelia Riza1Mihaela Popescu2Rebecca-Cristiana Șerban3Andreea-Mădălina Mituț-Velișcu4Ioana Streață5Department of Biophysics, University of Medicine and Pharmacy of Craiova, 200349 Craiova, RomaniaLaboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, RomaniaDepartment of Endocrinology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, RomaniaLaboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, RomaniaRegional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, RomaniaLaboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, RomaniaOsteogenesis imperfecta (OI) is a rare hereditary connective tissue disorder. Diagnosis is typically clinical; genetic testing can contribute. <b>Objectives</b>: We are presenting a case series of type I OI in Romanian patients, showcasing the difficulties in diagnostic and case management in pediatric and adult cases. <b>Methods</b>: Nine patients were referred to the Regional Centre for Medical Genetics (CRGM), Dolj, Craiova, between 2021 and 2024. Genetic testing was conducted using the commercially available kit Illumina<sup>®</sup> TruSight™ One. <b>Results</b>: Most of the patients showed blue sclerae, significant fracture history, and reduced stature. In our case series, the genetic variants for seven of the cases identified are primarily in the <i>COL1A1</i> and <i>COL1A2</i> genes. Our study reveals significant clinical variability among patients, even among those with identical genetic variants. This emphasizes the importance of tailored surgical and rehabilitation programs to improve the quality of life for these patients. <b>Conclusions</b>: Our study contributes to the genetic landscape of OI. Future research should aim to include larger, more diverse cohorts and incorporate advanced genetic analysis techniques to identify additional genetic variants and mechanisms involved in OI.https://www.mdpi.com/2227-9059/13/4/865osteogenesis imperfectaconnective tissue disordergenetic testingcase series |
| spellingShingle | Andrei Costache Anca-Lelia Riza Mihaela Popescu Rebecca-Cristiana Șerban Andreea-Mădălina Mituț-Velișcu Ioana Streață Diagnostic Challenges in Bone Fragility: Osteogenesis Imperfecta Case Series Biomedicines osteogenesis imperfecta connective tissue disorder genetic testing case series |
| title | Diagnostic Challenges in Bone Fragility: Osteogenesis Imperfecta Case Series |
| title_full | Diagnostic Challenges in Bone Fragility: Osteogenesis Imperfecta Case Series |
| title_fullStr | Diagnostic Challenges in Bone Fragility: Osteogenesis Imperfecta Case Series |
| title_full_unstemmed | Diagnostic Challenges in Bone Fragility: Osteogenesis Imperfecta Case Series |
| title_short | Diagnostic Challenges in Bone Fragility: Osteogenesis Imperfecta Case Series |
| title_sort | diagnostic challenges in bone fragility osteogenesis imperfecta case series |
| topic | osteogenesis imperfecta connective tissue disorder genetic testing case series |
| url | https://www.mdpi.com/2227-9059/13/4/865 |
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