Prenatal diagnosis of thalidomide syndrome |
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| Authors: | T R Gollop MD Phd A Eigier J Guidugli Neto |
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| Institution: | 1. Serviço de Genética Humana da Associação Maternidade de São Paulo, Brazil;2. Laboratório de Anatomia Patológica do Hospital Israelita Albert Einstein, Brazil |
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| Abstract: | A case of thalidomide syndrome diagnosed by ultrasound in the 17th week of pregnancy is presented. The pregnant woman had leprosy and received adjuvant treatment with thalidomide. The affected fetus was exposed to the drug until the 35th day of pregnancy and presented absent external ears, upper limb phocomelia and absent tibiae and fibulae. No internal organ abnormalities were noticed at autopsy. |
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| Keywords: | Phocomelia Prenatal diagnosis Skeletal dysplasia Thalidomide syndrome Ultrasound |
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