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Alagille syndrome: Prenatal sonographic findings
Author(s) -
Ghidini Alessandro,
Incerti Maddalena,
Andreani Marianna
Publication year - 2007
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.20292
Subject(s) - alagille syndrome , medicine , tetralogy of fallot , agenesis , prenatal diagnosis , pregnancy , gallbladder , intrahepatic bile ducts , fetus , radiology , pathology , anatomy , cholestasis , heart disease , bile duct , genetics , biology
We report a case of Alagille syndrome in which sonographic examination revealed the presence of angulation of the fetal spine due to vertebral fusion as well as tetralogy of Fallot. Histologic examination after pregnancy termination revealed the presence of agenesis of the gallbladder with a paucity of intrahepatic bile ducts, leading to the diagnosis of Alagille syndrome. In the presence of cardiac and axial skeletal anomalies, attention should be paid to the fetal gallbladder, whose absence would signal a diagnosis of Alagille syndrome. © 2007 Wiley Periodicals, Inc. J Clin Ultrasound, 2007