Extrahepatic biliary atresia with laterality sequence anomalies.
The patient was the first child of first cousin parents. He was born at term after an uneventful pregnancy with normal height, weight and head circumference. Jaundice appeared at 15 days of age. Ventricular septal defects and valvular pulmonary stenosis were diagnosed. An hepatic workup revealed extrahepatic biliary atresia and abdominal situs inversus. Hepatic biopsy showed cirrhosis with intrahepatic cholestasis. Genetic factors are suggested in extrahepatic biliary atresia. Analysis of segregation patterns suggested the existence of two major groups, one with various combinations of anomalies within the laterality sequence and the other with one or two anomalies mostly involving the cardiac, gastrointestinal, and urinary systems. This patient belongs to the first group.
Stoll
C
C
Service de Génétique Médicale, Centre Hospitalo-Universitaire, Steasbourg, France. Claude.Stoll@chru-strasbourg.fr
Morali
A
A
Leheup
B
B
Lucron
H
H
D017734:Bile Ducts, Extrahepatic / Q000473:pathology*; D001656:Biliary Atresia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002657:Child Development; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008111:Liver Function Tests; D008297:Male