title: An unusual case of trisomy 18 associated with paucity of bile ducts.
abstract: A case of neonatal cholestasis associated with Trisomy 18 (Edward's syndrome) is presented. A 3-day-old boy was referred to our clinic due to respiratory distress, elevated serum direct bilirubin levels, a systolic heart murmur, growth restriction and micrognathia. Liver biopsy and chromosomal analysis revealed paucity of intrahepatic bile ducts and Trisomy 18. Extrahepatic biliary atresia was reported in only a few patients with Trisomy 18. To our knowledge, we described for the first time a patient with Trisomy 18 and neonatal cholestasis associated with paucity of interlobular bile ducts.
authors: Department of Pediatrics, Division of Neonatology, Ministry of Health, Izmir Tepecik Research and Teaching Hospital, Turkey.
authors: Zelal
authors: Z
authors: Kahramaner
authors: Aydin
authors: A
authors: Erdemir
authors: Hese
authors: H
authors: Cosar
authors: Ebru
authors: E
authors: Turkoglu
authors: Sumer
authors: S
authors: Sutcuoglu
authors: Ozlem
authors: O
authors: Turelik
authors: Suheyla
authors: S
authors: Cumurcu
authors: Umit
authors: U
authors: Bayol
authors: Esra
authors: E
authors: Ozer
mesh_terms: D001653:Bile Ducts, Intrahepatic / Q000002:abnormalities*; D002780:Cholestasis, Intrahepatic / Q000235:genetics / Q000473:pathology; D002887:Chromosomes, Human, Pair 18; D003241:Consanguinity; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014314:Trisomy / Q000473:pathology*; D000073842:Trisomy 18 Syndrome