Clinical and genetic research of patients with osteogenesis imperfecta, fracture types and treatment results

Objective: To determine the mutation types and to reveal the relationship between the mutation types and the number and types of fractures which required nonoperative and surgical treatment and to compare the results with the literature Material & Method: In this study, we examined 27 patients and their hospital records who were diagnosed or treated with nonoperative and surgical measures with Osteogenesis Imperfecta in Cukurova University Faculty of Medicine, Department of Orthopedics and Traumatology, between Jan 2011 and Jan 2020. Results: According to the Sillence classification of the 27 patients we treated, 15 were type IA (55,6 %), 3 were type IB (11,1 %), 3 were type III (11,1 %), 1 was type IVA, 5 were diagnosed with type IVB (18,5 %) Osteogenesis Imperfecta. We found COL1A1 in 18 (66,7 %), COL1A2 in 3 (11,1 %), SERPINF1 in 1 (3,7 %) patients. There were 5 non COL1A1-COL1A2 (18,5 %) genetic mutations. Patients had a total of 131 fractures in a nine-year period. There were 61 (46,6 %) femur, 42 (32 %) tibia, 13 (10 %) humerus, 11 (8,4 %) forearm, 2 (1,5 %) elbow and 2 (1,5 %) clavicle fractures. There were 103 (78,6 %) lower extremity, and 28 (21,4 %) upper extremity fractures. Conclusion: Patient diagnosed with Sillence type IA Osteogenesis Imperfecta were the most common patient group. COL1A1 gene mutation was the most common in patients with Oİ. The most common G>A Heterozygous sub mutation type was observed. Lower extremity fractures were most common in patients with Oİ, while the most frequently broken bone and fracture type was left femur shaft fractures. Nonoperative methods were used most frequently in the treatment of fractures.