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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.
AuthorsE Boudon, Y Levy, T Abossolo, François Cartault, P Brouillard, M Vikkula, M Kieffer-Traversier, D Ramful, J L Alessandri
JournalEuropean journal of medical genetics (Eur J Med Genet) Vol. 58 Issue 6-7 Pg. 329-31 ( 2015) ISSN: 1878-0849 [Electronic] Netherlands
PMID25896638 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2015 Elsevier Masson SAS. All rights reserved.
Chemical References
  • FLT4 protein, human
  • Vascular Endothelial Growth Factor Receptor-3
Topics
  • Adult
  • Female
  • Humans
  • Hydrops Fetalis (diagnostic imaging, genetics)
  • Infant, Newborn
  • Lymphedema (diagnostic imaging, genetics)
  • Male
  • Mutation, Missense
  • Pregnancy
  • Ultrasonography, Prenatal
  • Vascular Endothelial Growth Factor Receptor-3 (genetics)

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