TY  - JOUR
AU  - Liana, Stephanie
AU  - Cayami, Ferdy Kurniawan
AU  - Moelyo, Annang Giri
AU  - Artati, Ratna Dewi
AU  - Faizi, Muhammad
AU  - Rochmah, Nur
AU  - Andid, Rusdi
AU  - Hasanah, Yulisnawati
AU  - Aditiawati, 
AU  - Utari, Agustini
PY  - 2026
DA  - 2026/06/02
TI  - Clinical Manifestation of Osteogenesis Imperfecta in Indonesian Patients: A Multi-Centre Study
JO  - OBM Genetics
SP  - 344
VL  - 10
IS  - 02
AB  - 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 (
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2602344
DO  - 10.21926/obm.genet.2602344
ID  - Liana2026
ER  -