Prenatal diagnosis of lethal osteogenesis imperfecta (OI) by ultrasonography |
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Authors: | Z. M. Patel H. L. Shah P. F. Madon L. M. Ambani |
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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 |
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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. |
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Keywords: | Osteogenesis imperfecta Prenatal diagnosis Ultrasound |
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