An Unusual Case of Trisomy 18 Associated with Paucity of Bile Ducts. (1st October 2013)

• Record Type: Journal Article
• Authors: Kahramaner, Zelal; Erdemir, Aydin; Cosar, Hese; Turkoglu, Ebru; Sutcuoglu, Sumer; Turelik, Ozlem; Cumurcu, Suheyla; Bayol, Umit; Ozer, Esra
• Is Part Of: Fetal and pediatric pathology. Volume 32:Number 5(2013)
• Page Start: 337
• Page End: 340
• Publication Date: 2013-10-01
• Subjects: Pathology, Molecular -- Periodicals; Pediatrics -- Periodicals; Molecular biology -- Periodicals; Pediatric pathology -- Periodicals; Fetal Diseases -- pathology -- Periodicals; Infant, Newborn, Diseases -- pathology -- Periodicals; Pediatrics -- Periodicals; 618.92007
• DOI: 10.3109/15513815.2013.768736
• Languages: English
• ISSNs: 1551-3815

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <p>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.</p> </abstract>