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Prenatal diagnosis of lethal osteogenesis imperfecta (OI) by ultrasonography
Authors:Z. M. Patel  H. L. Shah  P. F. Madon  L. M. Ambani
Affiliation:1. Unit of Medical Genetics, Institute for Research in Reproduction, Jehangir Merwanji Street, Parel, Bombay-400 012, India;2. Nowrosjee Wadia Hospital, Parel, Bombay-400 012, India
Abstract:Ultrasonography was performed during the second trimester (17 weeks) in a pregnancy at risk for osteogenesis imperfecta congenita (OI). The scan showed that the femur was short, bent and dense. Radiologic examination of the fetus after interruption of pregnancy showed typical X-ray changes of OI.
Keywords:Osteogenesis imperfecta  Prenatal diagnosis  Ultrasound
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