Antenatal presentation of hereditary lymphedema type I.
Identifieur interne : 000B08 ( France/Analysis ); précédent : 000B07Antenatal presentation of hereditary lymphedema type I.
Auteurs : E. Boudon [France] ; Y. Levy [France] ; T. Abossolo [France] ; François Cartault [France] ; P. Brouillard [Belgique] ; M. Vikkula [Belgique] ; M. Kieffer-Traversier [France] ; D. Ramful [France] ; J L Alessandri [France]Source :
- European journal of medical genetics [ 1878-0849 ]
Descripteurs français
- KwdFr :
- Adulte, Anasarque foeto-placentaire (génétique), Anasarque foeto-placentaire (imagerie diagnostique), Femelle, Grossesse, Humains, Lymphoedème (génétique), Lymphoedème (imagerie diagnostique), Mutation faux-sens, Mâle, Nouveau-né, Récepteur-3 au facteur croissance endothéliale vasculaire (génétique), Échographie prénatale.
- MESH :
- génétique : Anasarque foeto-placentaire, Lymphoedème, Récepteur-3 au facteur croissance endothéliale vasculaire.
- imagerie diagnostique : Anasarque foeto-placentaire, Lymphoedème.
- Adulte, Femelle, Grossesse, Humains, Mutation faux-sens, Mâle, Nouveau-né, Échographie prénatale.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Vascular Endothelial Growth Factor Receptor-3.
- diagnostic imaging : Hydrops Fetalis, Lymphedema.
- genetics : Hydrops Fetalis, Lymphedema.
- Adult, Female, Humans, Infant, Newborn, Male, Mutation, Missense, Pregnancy, Ultrasonography, Prenatal.
Abstract
Fetal edema can present as limited subcutaneous edema, fluid accumulation in body cavities or hydrops fetalis. Hydrops fetalis is the end stage of a variety of fetal/maternal disorders and nonimmune etiology represents more than 3/4 of cases. Lymphatic dysplasia may account for a subset of patients with nonimmune and "idiopathic" hydrops fetalis, fetal chylous ascites or chylothorax. We present two unrelated patients with antenatal features of hereditary lymphedema syndrome, in whom Milroy disease was diagnosed after birth. At least, 20 genes have been identified to cause primary lymphedema, with sometimes antenatal features. Hereditary lymphedema syndrome should be considered in cases of nonimmune hydrops fetalis/fetal edema after ruling out the more common etiologies.
DOI: 10.1016/j.ejmg.2015.03.006
PubMed: 25896638
Affiliations:
- Belgique, France
- Région de Bruxelles-Capitale
- Bruxelles, Louvain-la-Neuve
- Université catholique de Louvain
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pubmed:25896638Le document en format XML
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Electronic address: alessandri974@gmail.com.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service Réanimation Néonatale, Service Gynécologie-Obstétrique, Pole Femme Mère Enfant, CH Felix Guyon, CHU La Réunion</wicri:regionArea><wicri:noRegion>CHU La Réunion</wicri:noRegion><wicri:noRegion>CHU La Réunion</wicri:noRegion></affiliation></author></analytic><series><title level="j">European journal of medical genetics</title><idno type="eISSN">1878-0849</idno></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Female</term><term>Humans</term><term>Hydrops Fetalis (diagnostic imaging)</term><term>Hydrops Fetalis (genetics)</term><term>Infant, Newborn</term><term>Lymphedema (diagnostic imaging)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Mutation, Missense</term><term>Pregnancy</term><term>Ultrasonography, Prenatal</term><term>Vascular Endothelial Growth Factor Receptor-3 (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Anasarque foeto-placentaire (génétique)</term><term>Anasarque foeto-placentaire (imagerie diagnostique)</term><term>Femelle</term><term>Grossesse</term><term>Humains</term><term>Lymphoedème (génétique)</term><term>Lymphoedème (imagerie diagnostique)</term><term>Mutation faux-sens</term><term>Mâle</term><term>Nouveau-né</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire (génétique)</term><term>Échographie prénatale</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Vascular Endothelial Growth Factor Receptor-3</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Hydrops Fetalis</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hydrops Fetalis</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Anasarque foeto-placentaire</term><term>Lymphoedème</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire</term></keywords><keywords scheme="MESH" qualifier="imagerie diagnostique" xml:lang="fr"><term>Anasarque foeto-placentaire</term><term>Lymphoedème</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Humans</term><term>Infant, Newborn</term><term>Male</term><term>Mutation, Missense</term><term>Pregnancy</term><term>Ultrasonography, Prenatal</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Femelle</term><term>Grossesse</term><term>Humains</term><term>Mutation faux-sens</term><term>Mâle</term><term>Nouveau-né</term><term>Échographie prénatale</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Fetal edema can present as limited subcutaneous edema, fluid accumulation in body cavities or hydrops fetalis. Hydrops fetalis is the end stage of a variety of fetal/maternal disorders and nonimmune etiology represents more than 3/4 of cases. Lymphatic dysplasia may account for a subset of patients with nonimmune and "idiopathic" hydrops fetalis, fetal chylous ascites or chylothorax. We present two unrelated patients with antenatal features of hereditary lymphedema syndrome, in whom Milroy disease was diagnosed after birth. At least, 20 genes have been identified to cause primary lymphedema, with sometimes antenatal features. Hereditary lymphedema syndrome should be considered in cases of nonimmune hydrops fetalis/fetal edema after ruling out the more common etiologies.</div></front></TEI><affiliations><list><country><li>Belgique</li><li>France</li></country><region><li>Région de Bruxelles-Capitale</li></region><settlement><li>Bruxelles</li><li>Louvain-la-Neuve</li></settlement><orgName><li>Université catholique de Louvain</li></orgName></list><tree><country name="France"><noRegion><name sortKey="Boudon, E" sort="Boudon, E" uniqKey="Boudon E" first="E" last="Boudon">E. Boudon</name></noRegion><name sortKey="Abossolo, T" sort="Abossolo, T" uniqKey="Abossolo T" first="T" last="Abossolo">T. Abossolo</name><name sortKey="Alessandri, J L" sort="Alessandri, J L" uniqKey="Alessandri J" first="J L" last="Alessandri">J L Alessandri</name><name sortKey="Cartault, Francois" sort="Cartault, Francois" uniqKey="Cartault F" first="François" last="Cartault">François Cartault</name><name sortKey="Kieffer Traversier, M" sort="Kieffer Traversier, M" uniqKey="Kieffer Traversier M" first="M" last="Kieffer-Traversier">M. Kieffer-Traversier</name><name sortKey="Levy, Y" sort="Levy, Y" uniqKey="Levy Y" first="Y" last="Levy">Y. Levy</name><name sortKey="Ramful, D" sort="Ramful, D" uniqKey="Ramful D" first="D" last="Ramful">D. Ramful</name></country><country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="Brouillard, P" sort="Brouillard, P" uniqKey="Brouillard P" first="P" last="Brouillard">P. Brouillard</name></region><name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M" last="Vikkula">M. 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