Robinow's syndrome: Prenatal diagnosis |
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| Authors: | G Loverro G Guanti G Caruso L Selvaggi |
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| Institution: | 1. Cattedra di Genetica Medico, Università degli Studi di Bah, Bari, Italy;2. Caltedra di Anatomia Patologica Cardiovascolare, Università degli Studi di Bah, Bari, Italy;3. Cattedra di Patologia Ostetrica e Ginecologia‘R’, Università degli Studi di Bah, Bari, Italy |
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| Abstract: | The prenatal diagnosis of Robinow' s syndrome was accomplished in our case by measuring the length of the long bones and the ulna/humerus ratio. Although the prenatal sonographic appearance did not show the typical 8-week fetal face, pathological findings confirmed this particular feature. In view of the strongly suggestive family history, the authors consider the possible mechanisms of genetic inheritance. |
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| Keywords: | Robinow syndrome Mesomelic dysplasia Rhizomelic limb shortening Prenatal diagnosis |
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