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Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema

2005; Wiley; Volume: 25; Issue: 11 Linguagem: Inglês

10.1002/pd.1237

1097-0223

Etty Daniel‐Spiegel, Arash Ghalamkarpour, Ronen Spiegel, Ehud Weiner, Miikka Vikkula, Eliezer Shalev, Stavit Shalev,

Sympathectomy and Hyperhidrosis Treatments

Prenatal DiagnosisVolume 25, Issue 11 p. 1015-1018 Short Communication Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema Etty Daniel-Spiegel, Etty Daniel-Spiegel Department of Obstetrics and Gynecology, Ha'Emek Medical Center, Afula, Israel Rappaport Faculty of Medicine, Technion–Israel Institute of Technology, Haifa, IsraelSearch for more papers by this authorArash Ghalamkarpour, Arash Ghalamkarpour Laboratory of Human Molecular Genetics, Christian de Duve Institute and University of Louvain Medical School, Brussels, BelgiumSearch for more papers by this authorRonen Spiegel, Ronen Spiegel Rappaport Faculty of Medicine, Technion–Israel Institute of Technology, Haifa, Israel Genetics Institute, Ha'Emek Medical Center, Afula, IsraelSearch for more papers by this authorEhud Weiner, Ehud Weiner Department of Obstetrics and Gynecology, Ha'Emek Medical Center, Afula, Israel Rappaport Faculty of Medicine, Technion–Israel Institute of Technology, Haifa, IsraelSearch for more papers by this authorMiikka Vikkula, Miikka Vikkula Laboratory of Human Molecular Genetics, Christian de Duve Institute and University of Louvain Medical School, Brussels, BelgiumSearch for more papers by this authorEliezer Shalev, Corresponding Author Eliezer Shalev shaleve@tx.technion.ac.il Department of Obstetrics and Gynecology, Ha'Emek Medical Center, Afula, Israel Rappaport Faculty of Medicine, Technion–Israel Institute of Technology, Haifa, IsraelDepartment of Obstetrics and Gynecology, HaEmek Medical Center, Afula 18101, Israel.Search for more papers by this authorStavit Alon Shalev, Stavit Alon Shalev Rappaport Faculty of Medicine, Technion–Israel Institute of Technology, Haifa, Israel Genetics Institute, Ha'Emek Medical Center, Afula, IsraelSearch for more papers by this author Etty Daniel-Spiegel, Etty Daniel-Spiegel Department of Obstetrics and Gynecology, Ha'Emek Medical Center, Afula, Israel Rappaport Faculty of Medicine, Technion–Israel Institute of Technology, Haifa, IsraelSearch for more papers by this authorArash Ghalamkarpour, Arash Ghalamkarpour Laboratory of Human Molecular Genetics, Christian de Duve Institute and University of Louvain Medical School, Brussels, BelgiumSearch for more papers by this authorRonen Spiegel, Ronen Spiegel Rappaport Faculty of Medicine, Technion–Israel Institute of Technology, Haifa, Israel Genetics Institute, Ha'Emek Medical Center, Afula, IsraelSearch for more papers by this authorEhud Weiner, Ehud Weiner Department of Obstetrics and Gynecology, Ha'Emek Medical Center, Afula, Israel Rappaport Faculty of Medicine, Technion–Israel Institute of Technology, Haifa, IsraelSearch for more papers by this authorMiikka Vikkula, Miikka Vikkula Laboratory of Human Molecular Genetics, Christian de Duve Institute and University of Louvain Medical School, Brussels, BelgiumSearch for more papers by this authorEliezer Shalev, Corresponding Author Eliezer Shalev shaleve@tx.technion.ac.il Department of Obstetrics and Gynecology, Ha'Emek Medical Center, Afula, Israel Rappaport Faculty of Medicine, Technion–Israel Institute of Technology, Haifa, IsraelDepartment of Obstetrics and Gynecology, HaEmek Medical Center, Afula 18101, Israel.Search for more papers by this authorStavit Alon Shalev, Stavit Alon Shalev Rappaport Faculty of Medicine, Technion–Israel Institute of Technology, Haifa, Israel Genetics Institute, Ha'Emek Medical Center, Afula, IsraelSearch for more papers by this author First published: 17 October 2005 https://doi.org/10.1002/pd.1237Citations: 36AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Abstract Objectives To report a rare case of primary congenital lymphedema (PCL) presenting as hydrops fetalis. Methods The patient presented at 33+4 weeks' gestation with polyhydramnios, massive bilateral hydrothorax, skin edema, scalp edema and minimal ascites. In utero thoracocentesis was performed and delivery was induced. Follow-up at 12 months of age revealed moderate bilateral foot edema with otherwise normal development. Results The diagnosis of PCL was suspected on the basis of the family history. DNA analysis revealed a novel missense mutation, E1106K, in the tyrosine kinase domain of the vascular endothelial growth factor receptor 3 gene (VEGFR3/FLT4). Conclusion PCL should be considered in the differential diagnosis of hydrops fetalis. Knowledge of the favorable course, variable clinical presentation, therapy options and genetic basis should contribute to better pregnancy counseling and management. Copyright © 2005 John Wiley & Sons, Ltd. Citing Literature Volume25, Issue11November 2005Pages 1015-1018 RelatedInformation