Savitri Kuntari; Nur Rochmah; Muhammad Faizi; Yuni Hisbiyah; Rayi Kurnia Perwitasari
Abstract
A rare bone condition known as osteogenesis imperfecta (OI) is brought on by an inherited connective tissue abnormality. Even within families who share a common mutation, symptoms might ...
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A rare bone condition known as osteogenesis imperfecta (OI) is brought on by an inherited connective tissue abnormality. Even within families who share a common mutation, symptoms might differ widely. H, a boy, aged 12, and F, a boy, aged 10, are siblings. Since they were 5 months old and 5 years old, their main complaint was repeated fractures in the lower extremities as a result of minor trauma. Only the mother's family had the same OI clinical manifestation characteristics. Physical examination revealed no signs of dentinogenesis imperfecta, blue sclera, hypermobility of the joints, or hearing problems. They have delayed growth and mild bone deformities. Pathologic fracture, cortical thinning, osteopenia, and pseudoarthrosis were all discovered during the radiology examination. The patient has received fixation, Biphosphonate injection, supportive care, and surgery. Therapy that was both definite and supportive was used to manage the patient. We monitored both patients physical and radiological examination, as well as the quality of life using PedsQL 4.0 Generic Core Scales aged 8-12 years for Child and Parent Report for Children before and after a year of monitoring, we observed that both the patient's symptoms and quality of life had improved.
