An Unusual Case of Trisomy 18 Associated with Paucity of Bile Ducts

被引：5

作者：

Kahramaner, Zelal ^{[1
]}

Erdemir, Aydin ^{[1
]}

Cosar, Hese ^{[1
]}

Turkoglu, Ebru ^{[1
]}

Sutcuoglu, Sumer ^{[1
]}

Turelik, Ozlem ^{[2
]}

Cumurcu, Suheyla ^{[2
]}

Bayol, Umit ^{[2
]}

Ozer, Esra ^{[1
]}

机构：

[1] Izmir Tepecik Res & Teaching Hosp, Dept Pediat, Div Neonatol, Minist Hlth, Izmir, Turkey

[2] Izmir Tepecik Res & Teaching Hosp, Dept Pathol, Minist Hlth, Izmir, Turkey

来源：

FETAL AND PEDIATRIC PATHOLOGY | 2013年 / 32卷 / 05期

关键词：

chromosomal disorders; edward's syndrome; trisomy; 18; paucity of intrahepatic bile duct; SURVIVAL; INFANCY;

D O I：

10.3109/15513815.2013.768736

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

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.

引用

页码：337 / 340

页数：4

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