title: Congenital plaque-type glomuvenous malformation associated with chylous ascites.
abstract: Congenital plaque-type glomuvenous malformation (GVM) is caused by loss of function mutations in glomulin gene. We report a newborn with this rare vascular disorder associated with chylous ascites. The common mesenchymal origin of GVM and lymphatic vessels as well as the glomulin expression in vascular smooth muscle cells in utero could help explain this unusual prenatal complication of glomuvenous malformations.
authors.affiliation: Department of Pediatrics, Hospital Universitario Son Dureta, Mallorca, Spain. mtejedormestre@yahoo.es
authors.forename: Maria
authors.initials: M
authors.lastname: Tejedor
authors.forename: Ana
authors.initials: A
authors.lastname: Martín-Santiago
authors.forename: Cristina
authors.initials: C
authors.lastname: Gómez
authors.forename: Miquel
authors.initials: M
authors.lastname: Fiol
authors.forename: Ignacio
authors.initials: I
authors.lastname: Benítez-Segura
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D002915:Chylous Ascites / Q000150:complications* / Q000151:congenital / Q000235:genetics*; D005260:Female; D005918:Glomus Tumor / Q000150:complications / Q000151:congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D042601:Lymphatic Vessels / Q000473:pathology / Q000502:physiology; D009131:Muscle, Smooth, Vascular / Q000473:pathology / Q000502:physiology; D010236:Paraganglioma, Extra-Adrenal / Q000150:complications / Q000151:congenital / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C103024:GLMN protein, human