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Osteogenesis imperfecta (OI), is a heritable, heterogeneous connective tissue disorder, characterized by fragile bones. There are conflicting results about genotype-phenotype correlations and efficiency of bisphosphonate treatment in this disorder. We aimed to evaluate the clinical, genetic characteristics, and long-term follow-up results of children and adolescents with OI. A two-center retrospective study was conducted using demographic, clinical, and genetic data obtained from the medical records of the patients. Twenty-nine patients (62% male, median age; 3.6 years) with OI diagnosis from 26 families were included in the study. Thirteen different variants (nine were novel) were described in 16 patients in  COL1A1, COL1A2 , and  P3H1  genes. Our siblings with homozygous  P3H1  variants had a severe phenotype with intrauterine and neonatal fractures. Twenty-two patients were treated with bisphosphonates (17 of them with pamidronate, five with alendronate) with a median duration of 3.0 (1.6–4.8) years. Eleven patients (50%) suffered from fractures after the treatment. Haploinsufficiency variants in  COL1A1  caused a milder skeletal phenotype with less fracture count and better treatment outcomes than structural variants. When compared with the anthropometric measurements at the initial diagnosis time, height Z-scores were lower on the last clinical follow-up (p = 0.009). We could not find an obvious genotype-phenotype correlation in Turkish OI patients with  COL1A1  or  COL1A2  variants. Treatment with pamidronate was effective in reducing fracture counts, without any long-term adverse effects.

Clinical, genetic characteristics and treatment outcomes of children and adolescents with osteogenesis imperfecta: a two-center experience