LymphedemaV1, Main, Exploration, bibRecord, 008630

Hydrops fetalis : an unusual prenatal presentation of hereditary congenital lymphedema

Identifieur interne : 008630 ( Main/Exploration ); précédent : 008629; suivant : 008631

Hydrops fetalis : an unusual prenatal presentation of hereditary congenital lymphedema

Auteurs : Etty Daniel-Spiegel [Israël] ; Arash Ghalamkarpour [Belgique] ; Ronen Spiegel [Israël] ; Ehud Weiner [Israël] ; Miikka Vikkula [Belgique] ; Eliezer Shalev [Israël] ; Stavit Alon Shalev [Israël]

Source :

Prenatal diagnosis [ 0197-3851 ] ; 2005.

RBID : Pascal:06-0096546

Descripteurs français

Pascal (Inist)
- Anasarque foetoplacentaire, Homme, Prénatal, Lymphoedème, Héréditaire, Congénital, Exploration ultrason, Gène, Génétique, Récepteur VEGFR3.
Wicri :
- topic : Homme, Génétique.

English descriptors

KwdEn :
- Congenital, Gene, Genetics, Hereditary, Human, Hydrops fetalis, Lymphedema, Prenatal, Sonography, Vascular endothelial growth factor receptor 3.

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.

Affiliations:

Links toward previous steps (curation, corpus...)

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Le document en format XML

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<author><name sortKey="Shalev, Stavit Alon" sort="Shalev, Stavit Alon" uniqKey="Shalev S" first="Stavit Alon" last="Shalev">Stavit Alon Shalev</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Rappaport Faculty of Medicine, Technion-Israel Institute of Technology</s1>
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<wicri:noRegion>Haifa</wicri:noRegion>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Congenital</term>
<term>Gene</term>
<term>Genetics</term>
<term>Hereditary</term>
<term>Human</term>
<term>Hydrops fetalis</term>
<term>Lymphedema</term>
<term>Prenatal</term>
<term>Sonography</term>
<term>Vascular endothelial growth factor receptor 3</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Anasarque foetoplacentaire</term>
<term>Homme</term>
<term>Prénatal</term>
<term>Lymphoedème</term>
<term>Héréditaire</term>
<term>Congénital</term>
<term>Exploration ultrason</term>
<term>Gène</term>
<term>Génétique</term>
<term>Récepteur VEGFR3</term>
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<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
<term>Génétique</term>
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<front><div type="abstract" xml:lang="en">Objectives To report a rare case of primary congenital lymphedema (PCL) presenting as hydrops fetalis. Methods The patient presented at 33<sup>+4</sup>
 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.</div>
</front>
</TEI>
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<tree><country name="Israël"><noRegion><name sortKey="Daniel Spiegel, Etty" sort="Daniel Spiegel, Etty" uniqKey="Daniel Spiegel E" first="Etty" last="Daniel-Spiegel">Etty Daniel-Spiegel</name>
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<name sortKey="Daniel Spiegel, Etty" sort="Daniel Spiegel, Etty" uniqKey="Daniel Spiegel E" first="Etty" last="Daniel-Spiegel">Etty Daniel-Spiegel</name>
<name sortKey="Shalev, Eliezer" sort="Shalev, Eliezer" uniqKey="Shalev E" first="Eliezer" last="Shalev">Eliezer Shalev</name>
<name sortKey="Shalev, Eliezer" sort="Shalev, Eliezer" uniqKey="Shalev E" first="Eliezer" last="Shalev">Eliezer Shalev</name>
<name sortKey="Shalev, Stavit Alon" sort="Shalev, Stavit Alon" uniqKey="Shalev S" first="Stavit Alon" last="Shalev">Stavit Alon Shalev</name>
<name sortKey="Shalev, Stavit Alon" sort="Shalev, Stavit Alon" uniqKey="Shalev S" first="Stavit Alon" last="Shalev">Stavit Alon Shalev</name>
<name sortKey="Spiegel, Ronen" sort="Spiegel, Ronen" uniqKey="Spiegel R" first="Ronen" last="Spiegel">Ronen Spiegel</name>
<name sortKey="Spiegel, Ronen" sort="Spiegel, Ronen" uniqKey="Spiegel R" first="Ronen" last="Spiegel">Ronen Spiegel</name>
<name sortKey="Weiner, Ehud" sort="Weiner, Ehud" uniqKey="Weiner E" first="Ehud" last="Weiner">Ehud Weiner</name>
<name sortKey="Weiner, Ehud" sort="Weiner, Ehud" uniqKey="Weiner E" first="Ehud" last="Weiner">Ehud Weiner</name>
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<country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="Ghalamkarpour, Arash" sort="Ghalamkarpour, Arash" uniqKey="Ghalamkarpour A" first="Arash" last="Ghalamkarpour">Arash Ghalamkarpour</name>
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<name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name>
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Hydrops fetalis : an unusual prenatal presentation of hereditary congenital lymphedema

Hydrops fetalis : an unusual prenatal presentation of hereditary congenital lymphedema

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Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

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