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We now report on two patients with trisomy 21 and congenital anomalies of the umbilico\u2010portal system. A male fetus showed absence of the intrahepatic portal vein (PV) and ductus venosus with a direct communication between portal sinus and inferior vena cava exhibiting an umbilicosystemic total shunt during the fetal life and a portosystemic total shunt after birth. A female infant showed absence of the intrahepatic PV and a total portocaval shunt. Both patients also had heart defects. As previously documented in other reports, our cases demonstrated that this association may be causally\u2010related to the chromosomal aberration. In addition, the umbilico\u2010portal venous system abnormalities seems to be the most frequent congenital vascular malformation in Down syndrome. A presumptive pathogenetic mechanism could be a trisomy 21\u2010related altered angiogenesis of the vitelloumbilical plexus. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20081","type":"journal-article","created":{"date-parts":[[2003,7,23]],"date-time":"2003-07-23T10:12:06Z","timestamp":1058955126000},"page":"528-532","source":"Crossref","is-referenced-by-count":33,"title":["Abnormalities of the umbilico\u2010portal venous system in Down syndrome: A report of two new 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