Prenatal ultrasonographic diagnosis of radial-ray reduction malformations |
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| Authors: | Jozien T J Brons Hans J Van Der Harten Herman P Van Geijn Juri W Wladimiroff Martinus F Niermeuer Dick Lindhout Patricia A Stuart Chris J L M Meijer Nico F Th Arts |
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| Institution: | 1. Department of Pathology, Free University Hospital, Amsterdam;2. Department of Obstetrics and Gynecology, Free University Hospital, Amsterdam;3. Department of Obstetrics and Gynecology, University Hospital Dijkzigt, Rotterdam, The Netherlands;4. Department of Clinical Genetics, University Hospital Dijkzigt, Rotterdam, The Netherlands |
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| Abstract: | Radial-ray reduction malformations (RRRMs) may occur isolated or in association with other anomalies. The data of seven fetuses born with RRRMs were collected. Six fetuses had associated lethal abnormalities of the central nervous system, urogenital system, and/or heart, detected by ultrasound. In five cases, it was possible to establish the precise diagnosis, enabling an informed prognosis and subsequent genetic counselling. The diagnoses were: Edwards syndrome (n=3), VACTERL association (n=1), and Poland-Moebius-like complex (n= 1). In two cases, a complete diagnosis was not possible because of inadequate evaluation of these fetuses before and/or after birth. A proposal is given for the diagnostic approach for infants with RRRMs detected in the antenatal period by means of ultrasonography. |
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| Keywords: | Ultrasonography Skeletal dysostosis Radial hypoplasia Radial aplasia Congenital limb defect |
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