An Unusual Presentation of Perinatal Osteogenesis Imperfecta Mimicking Fracture Femur – A Case Report
نویسندگان
چکیده
Osteogenesis imperfecta (OI) is a genetic disease characterized by fragile bones, skeletal deformities and, in severe cases, prenatal death that affects more than 1 in 10,000 individuals. We report a case of a primigravida, a 24 yr old lady who presented in the emergency room of a secondary care hospital in Howrah, West Bengal, India (Silver Jubilee Matrisadan) at 36 weeks of gestation with breech presentation. Upon delivery by Em LSCS the Obstetrician & Neonatologist found that there was fracture in right femur and abnormally stunted left leg. Fracture femur during delivery was suspected. Radiological examination of both lower limbs showed fracture of right femur, with abnormal acute bowing of left femur with no associated shadow showing fracture haematoma. The neonate was transferred to a tertiary care centre for investigation and further diagnosis and management. Neonate was diagnosed to have Osteogenesis Imperfecta. This peculiar puzzling presentation which was primarily suspected as fracture of femur due to manipulation during breech delivery was subsequently diagnosed to be an undiagnosed case of osteogenesis imperfecta with intrauterine fractures.
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