A Case Report on Osteogenesis Imperfecta

Abstract

Background: Osteogenesis imperfecta is a heterogeneous group of inherited connective tissue disorders that share similar skeletal abnormalities that cause fragility, bone deformity, and fracture risk, leading to the name brittle bones. It has an incidence of approximately 1 in every 15,000 to 20,000 newborns and is considered a rare disease. Presentation of Case: A woman who was unaware of her pregnancy and without prenatal care delivered a 2.2 kg male infant at home; he was admitted with head trauma, cranial crepitation, occipital fracture, and neonatal sepsis. Radiological evaluation revealed fractures in various bones, and osteogenesis imperfecta was suspected. The mother said that father and paternal grandfather had osteogenesis imperfecta. The patient was referred to for genetic sequencing (pending). The mother said that the patient's progress was good, with adequate fracture healing. Conclusion: The control prenatal is fundamental to detect osteogenesis imperfecta and avoid a late diagnosis with poor prognostic of the newborn.