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29 May 2024 : Clinical Research  

A Retrospective Study of the Presentation, Diagnosis, Management, and Outcomes of 27 Patients with Osteogenesis Imperfecta at a Single Center in Türkiye

Mehmet Yiğit Gökmen ORCID logo1ABCDEF*, Akif Mirioğlu ORCID logo2E, Buğra Kundakçı2E, İbrahim Boğa3BE, Ömer Sunkar Biçer2ACE

DOI: 10.12659/MSM.944364

Med Sci Monit 2024; 30:e944364



BACKGROUND: This retrospective study aimed to evaluate the presentation, diagnosis, management, and outcomes of 27 patients diagnosed with osteogenesis imperfecta at a single center in Türkiye between January 2011 and January 2020.

MATERIAL AND METHODS: We analyzed data from the medical records of 27 patients with osteogenesis imperfecta admitted to Çukurova University Faculty of Medicine, Department of Orthopedics and Traumatology, between January 2011 and January 2020. The data included the clinical examination notes of the cases classified according to the Sillence and Shapiro systems, age, sex, parental consanguinity, genetic analysis (DNA isolation) results, the number and localization of past fractures, treatment methods, complications, hypermobility, and ambulation scoring.

RESULTS: The mean age of the patients (n=13 male, n=14 female) was 10.4±7.4 years, ranging from 3 to 39 years. Almost half (n=15, 55.6%) had consanguineous parents. The patients had 131 fractures during the 9 years between January 2011 and January 2020, with the femur being the most commonly fractured bone; 13 patients (48.15%) received surgical and conservative treatments, while the remaining 14 underwent only conservative treatments. The results revealed a strong association between the number of fractures and the types of genetic mutations (P=0.004).

CONCLUSIONS: Study findings indicate that the type of genetic mutation was not significantly correlated with the risk of treatment complications in osteogenesis imperfecta cases. Nevertheless, the study reveals a noteworthy association between the type of mutation and the number of surgeries required. Specifically, patients with the COL1A1 mutation needed more surgeries.

Keywords: Femur, Fractures, Bone, Genetic Research, osteogenesis imperfecta

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Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750