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.

Objectives

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.

Methods

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® TruSight™ One.

Results

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 COL1A1 and COL1A2 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.

Conclusions

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.