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...

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Bibliographic Details
Published in:European journal of medical genetics 2007-03, Vol.50 (2), p.144-148
Main Authors: Galán-Gómez, Enrique, Sánchez, Emilio Blesa, Arias-Castro, Sonia, Cardesa-García, Juan J
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Biliary Atresia - genetics
Biological and medical sciences
Cesarean Section
Cholestasis - pathology
Digestive System Abnormalities - genetics
Digestive System Abnormalities - surgery
Diseases of mother, fetus and pregnancy
Duodenal atresia
Extrahepatic biliary atresia
Fatal Outcome
Female
Fetal Growth Retardation - diagnosis
Fetal Growth Retardation - genetics
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genes, Recessive
Genetics of eukaryotes. Biological and molecular evolution
Gestational Age
Gynecology. Andrology. Obstetrics
Humans
Hypoplastic pancreas
Infant, Newborn
Intestinal Atresia - genetics
Intestinal malrotation
Liver - surgery
Medical Education
Medical genetics
Medical sciences
Molecular and cellular biology
Pancreas - abnormalities
Pregnancy
Pregnancy Trimester, Third
Pregnancy. Fetus. Placenta
Syndrome
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Summary: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.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2006.12.001