We describe a case of Alagille syndrome diagnosed by second-trimester ultrasound. Features included the characteristic prominent chin, single umbilical artery, and hemivertebrae. Three-dimensional imaging demonstrated classic butterfly vertebrae, which were not otherwise appreciable. Alagille syndrome may be detected by second-trimester ultrasound in the at-risk fetus.
Keywords: Alagille syndrome; butterfly vertebrae; fetal malformations; hemivertebrae; intrahepatic cholestasis; obstetrics; ultrasonography.
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