Antenatal presentation of hereditary lymphedema type I

被引：5

作者：

Boudon, E. ^{[1
]}

Levy, Y. ^{[1
]}

Abossolo, T. ^{[1
]}

Cartault, Franois ^{[2
]}

Brouillard, P.

Vikkula, M. ^{[3
]}

Kieffer-Traversier, M. ^{[1
]}

Ramful, D. ^{[1
]}

Alessandri, J. L. ^{[1
]}

机构：

[1] CHU La Reunion, CH Felix Guyon, Serv Reanimat Neonatale, Serv Gynecol Obstet,Pole Femme Mere Enfant, La Reunion, France

[2] CHU La Reunion, CH Felix Guyon, Serv Genet, La Reunion, France

[3] Catholic Univ Louvain, Walloon Excellence Lifesci & Biotechnol WELBIO, B-1200 Brussels, Belgium

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2015年 / 58卷 / 6-7期

关键词：

Hereditary lymphedema type I; Milroy disease; VEGFR3; Congenital hereditary lymphedema; Hydrops fetalis; Prenatal diagnosis; HYDROPS-FETALIS; MUTATIONS; DIAGNOSIS; VEGFR3;

D O I：

10.1016/j.ejmg.2015.03.006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2015 Elsevier Masson SAS. All rights reserved.

引用

页码：329 / 331

页数：3

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