Prenatal diagnosis of autosomal recessive osteopetrosis,infantile type,by X-ray evaluation |
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| Authors: | G. Oǧur MD E. Oǧur B. Celasun Ï. Basȩr N. Ïmïrzalioǧlu T. Öztürk A. Alemdaroǧlu |
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| Affiliation: | 1. Gata Medical Faculty, Department of Medical Genetics, Etlik, Ankara, Turkey;2. Gata Medical Faculty, Department of Pathology, Etlik, Ankara, Turkey;3. Gata Medical Faculty, Department of Obstetrics, Etlik, Ankara, Turkey;4. Gata Medical Faculty, Department of Radiology, Etlik, Ankara, Turkey |
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| Abstract: | Prenatal diagnosis for infantile osteopetrosis was attempted during the third pregnancy of a first-cousin marriage whose family history revealed an affected previous child. At the 25th week of pregnancy, fetal X-ray evaluation revealed marked sclerosis of osteopetrotic bone and metaphyseal splaying and clubbing of both femurs. The pregnancy was terminated and repeated X-rays and histopathological examination of fetal bone (femur) confirmed the diagnosis. |
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| Keywords: | recessive osteopetrosis prenatal diagnosis X-ray |
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