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Prenatal diagnosis of perinatally lethal osteogenesis imperfecta
Authors:B Rafael Elejalde  Maria Mercedes de Elejalde  John M Opitz
Abstract:Prenatal diagnosis of osteogenesis imperfecta was achieved at 17 weeks of gestation using ultrasound through recognition of low echogenic properties of all the bones, abnormally shaped skull, bell-shaped rib cage, distally thinned ribs, short and deformed long bones, wide metaphyses, and thin diaphyses. Severely limited abnormal movements, abnormal positioning of the lower limbs also were typical of the condition. The recognition of the signs reported in this paper will allow the identification of the condition in utero in the second trimester.
Keywords:prenatal diagnosis  osteogenesis imperfecta  ultrasound diagnosis
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