Multiple congenital anomalies: A suspected case of alagille syndrome variant in a Nigerian child

Congenital cardiac malformations co-existing with gastrointestinal anomalies have been fairly well reported. The authors report autopsy findings in a Nigerian child estimated to be about 3 months old who was born with imperforate anus, rectovaginal fistula, splenopancreatic fusion anomaly, biliary c...

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Bibliographic Details
Published inHuman Pathology Reports Vol. 27; p. 300594
Main Authors Festus Emiogun, Edobor, Ayodele Sanni, Daniel, Oladapo Obafunwa, John
Format Journal Article
LanguageEnglish
Published Elsevier Inc 01.03.2022
Elsevier
Subjects
Alagille syndrome variant
Biliary cirrhosis
Cholestasis
Congenital anomaly
Imperforate anus
Rectovaginal fistula
Splenopancreatic fusion
Truncus arteriosus
Imperforate anus
Rectovaginal fistula
Splenopancreatic fusion
Congenital anomaly
Biliary cirrhosis
Cholestasis
Alagille syndrome variant
Truncus arteriosus
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Summary:Congenital cardiac malformations co-existing with gastrointestinal anomalies have been fairly well reported. The authors report autopsy findings in a Nigerian child estimated to be about 3 months old who was born with imperforate anus, rectovaginal fistula, splenopancreatic fusion anomaly, biliary cirrhosis with cholestasis, truncus arteriosus, and ventricular septal defect. To our knowledge, this combination of defects is not common and has not been observed in literature. This case highlights the need to thoroughly investigate a child with gastrointestinal malformations in view of the possible association with multiple cardiac and other system anomalies.
ISSN:2772-736X
2772-736X
DOI:10.1016/j.hpr.2022.300594