title: Antenatal presentation of hereditary lymphedema type I.
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.
authors.affiliation: Service Réanimation Néonatale, Service Gynécologie-Obstétrique, Pole Femme Mère Enfant, CH Felix Guyon, CHU La Réunion, France.
authors.forename: E
authors.initials: E
authors.lastname: Boudon
authors.affiliation: Service Réanimation Néonatale, Service Gynécologie-Obstétrique, Pole Femme Mère Enfant, CH Felix Guyon, CHU La Réunion, France.
authors.forename: Y
authors.initials: Y
authors.lastname: Levy
authors.affiliation: Service Réanimation Néonatale, Service Gynécologie-Obstétrique, Pole Femme Mère Enfant, CH Felix Guyon, CHU La Réunion, France.
authors.forename: T
authors.initials: T
authors.lastname: Abossolo
authors.affiliation: Service de Génétique, CH Felix Guyon, CHU La Réunion, France.
authors.forename: François
authors.initials: F
authors.lastname: Cartault
authors.affiliation: Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.
authors.forename: P
authors.initials: P
authors.lastname: Brouillard
authors.affiliation: Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium; Walloon Excellence in Lifesciences and Biotechnology (WELBIO), Université catholique de Louvain, Brussels, Belgium.
authors.forename: M
authors.initials: M
authors.lastname: Vikkula
authors.affiliation: Service Réanimation Néonatale, Service Gynécologie-Obstétrique, Pole Femme Mère Enfant, CH Felix Guyon, CHU La Réunion, France.
authors.forename: M
authors.initials: M
authors.lastname: Kieffer-Traversier
authors.affiliation: Service Réanimation Néonatale, Service Gynécologie-Obstétrique, Pole Femme Mère Enfant, CH Felix Guyon, CHU La Réunion, France.
authors.forename: D
authors.initials: D
authors.lastname: Ramful
authors.affiliation: Service Réanimation Néonatale, Service Gynécologie-Obstétrique, Pole Femme Mère Enfant, CH Felix Guyon, CHU La Réunion, France. Electronic address: alessandri974@gmail.com.
authors.forename: J L
authors.initials: JL
authors.lastname: Alessandri
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging* / Q000235:genetics; D007231:Infant, Newborn; D008209:Lymphedema / Q000000981:diagnostic imaging* / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D011247:Pregnancy; D016216:Ultrasonography, Prenatal; D040321:Vascular Endothelial Growth Factor Receptor-3 / Q000235:genetics*
chemical_list: C581309:FLT4 protein, human; D040321:Vascular Endothelial Growth Factor Receptor-3
keywords: Congenital hereditary lymphedema; Hereditary lymphedema type I; Hydrops fetalis; Milroy disease; Prenatal diagnosis; VEGFR3