Prenatal diagnosis of robinow syndrome: A case report |
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Authors: | Simon Castro MD Efren Peraza MD Astrid Barraza MD Marco Zapata MD |
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Affiliation: | 1. Department of Obstetrics and Gynecology, Hospital General Dr. Norberto Trevi?o Zapata, , Victoria, Tamaulipas, Mexico;2. Department of Genetics, Hospital Infantil de Ciudad Victoria, , Tamaulipas, Mexico |
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Abstract: | Robinow syndrome, also known as fetal face syndrome, is a rare genetically heterogeneous condition characterized mainly by mesomelic limb shortening, facial malformations, and genital abnormalities. This report describes the sonographic findings in a case of autosomal‐dominant Robinow syndrome diagnosed at 23.1 weeks' gestation, in a patient with no history of affected relatives. Here we describe the sonographic characteristics of this syndrome from the diagnosis until birth. The prenatal and postnatal findings, the differential diagnosis, and the prognosis of patients with this syndrome are discussed. © 2013 Wiley Periodicals, Inc. J Clin Ultrasound, 42 :297–300, 2014 |
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Keywords: | Robinow syndrome fetal face syndrome prenatal diagnosis sonography fetal malformations |
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