OBM Genetics 2026, volume 10, issue 2 doi:10.21926/obm.genet.2602344
Clinical Manifestation of Osteogenesis Imperfecta in Indonesian Patients: A Multi-Centre Study
Stephanie Liana 1, †, Ferdy Kurniawan Cayami 2, †, Annang Giri Moelyo 3 , Ratna Dewi Artati 4 , Muhammad Faizi 5 , Nur Rochmah 5 , Rusdi Andid 6 , Yulisnawati Hasanah 7 , Aditiawati 7 , Agustini Utari 8, *
Abstract
Osteogenesis Imperfecta (OI) is a rare genetic disorder caused by mutations in genes that encode collagen, with varying clinical presentations. While some studies in Indonesia have reported OI’s clinical features and treatments, there is a lack of comprehensive national data, with limited awareness and access to specialized care for affected individuals. This collaborative study, involving multiple centres across Indonesia, aims to address data fragmentation by analyzing patient characteristics, clinical manifestations, and radiographic features of OI. This multi-centre study included 85 patients diagnosed with OI by expert clinicians across eight centres in Indonesia. Patients with alternative possible diagnoses were excluded. Data were collected through interviews, clinical evaluations, and medical records, focusing on patient characteristics, clinical manifestations, and radiographic features. Of 85 patients (43 males, 42 females), the most common age group was 0-5 years. Low birth weight (<2500 g) was observed in 31.25%, preterm pregnancies in 23.75%, history of miscarriages in 15.6%, advanced maternal age in 12.5%, and family history of OI in 30.9%. Fractures were the most frequent clinical feature (88.75%), followed by blue sclera (84.7%) and dentinogenesis imperfecta (35.4%). Deformitiesin the lowerlimbs were most prevalent (83.1%). Radiographic analysis showed bowing of long bones (97%), fractures (93.5%), and osteopenia (82.1%) as the most common manifestations. The study provides an overview of clinical and radiographic characteristics of OI in Indonesia and supports improved awareness to optimize patient outcomes.
Keywords Osteogenesis Imperfecta; collagen; genetic disorder; Indonesia