Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: Further evidence of the Martínez-Frías syndrome

  • Galán-Gómez E
  • Sánchez E
  • Arias-Castro S
 et al. 
  • 3

    Readers

    Mendeley users who have this article in their library.
  • 14

    Citations

    Citations of this article.

Abstract

We describe a patient born to consanguineous parents, who presented with an MCA pattern characterized by low birth weight, duodenal atresia, extrahepatic biliary atresia, hypoplastic pancreas and intestinal malrotation. The infant died 60 days after birth. Chromosomes at 550-600 band levels were normal for a female (46,XX). This patient confirmed the autosomal recessive disorder previously described by our group. The pathogenesis of this syndrome is most probably of blastogenetic origin mainly affecting midline developmental duodenal biliary pancreatic junction. © 2007 Elsevier Masson SAS. All rights reserved.

Author-supplied keywords

  • Duodenal atresia
  • Extrahepatic biliary atresia
  • Hypoplastic pancreas
  • Intestinal malrotation

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Find this document

Authors

  • Enrique Galán-Gómez

  • Emilio Blesa Sánchez

  • Sonia Arias-Castro

  • Juan J. Cardesa-García

Cite this document

Choose a citation style from the tabs below

Save time finding and organizing research with Mendeley

Sign up for free