Suspected Alagille syndromein a preterm newborn at Muhimbili National Hospital: A case report
Keywords:
Alagille syndrome, JAG1, NOTCH2, Cholestasis, Bile duct paucity.Abstract
Alagille syndrome is a rare genetic disorder characterized by abnormalities in the liver function caused by narrowing and malformation of the biliary tree which leads to cholestasis and hepatic failure. It also encompasses cardiac and skeletal anomalies with characteristic facial appearance. The diagnosis of Alagille syndrome is mainly through clinical presentation
and genetic testing. This case report highlights the clinical features characterizing the syndrome and the diagnostic challenges in resource limited settings.
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