title: Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martínez-Frías syndrome.
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.
authors.affiliation: Unidad de Genética, Departamento de Pediatría, Hospital Materno Infantil, Servicio Extremeño de Salud, Universidad de Extremadura, Badajoz, Spain. egalan@unex.es
authors.forename: Enrique
authors.initials: E
authors.lastname: Galán-Gómez
authors.forename: Emilio Blesa
authors.initials: EB
authors.lastname: Sánchez
authors.forename: Sonia
authors.initials: S
authors.lastname: Arias-Castro
authors.forename: Juan J
authors.initials: JJ
authors.lastname: Cardesa-García
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001656:Biliary Atresia / Q000235:genetics*; D002585:Cesarean Section; D002779:Cholestasis / Q000473:pathology; D004065:Digestive System Abnormalities / Q000235:genetics* / Q000601:surgery; D017809:Fatal Outcome; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis / Q000235:genetics*; D005808:Genes, Recessive; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000235:genetics*; D008099:Liver / Q000601:surgery; D010179:Pancreas / Q000002:abnormalities*; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D013577:Syndrome