Alagille syndrome due to a de novo NOTCH2 mutation presenting as prenatal oligohydramnios and congenital bilateral renal hypodysplasia: A case report

Alagille syndrome due to a de novo NOTCH2 mutation presenting as prenatal oligohydramnios and congenital bilateral renal hypodysplasia: A case report

IntroductionHere, we report the case of an infant suffering from Alagille syndrome (ALGS), manifesting with the atypical clinical manifestations of prenatal oligohydramnios and renal lesions. To the best of our knowledge, this is the first case of ALGS presenting as prenatal oligohydramnios and rena...

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Bibliographic Details
Main Authors: Fengdan Xu, Qi Peng, Xiaoguang He, Xiaolan Chen, Shuanglan Jiang, Xiaomei Lu, Ning Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Pediatrics
Subjects:
Alagille syndrome
NOTCH2 gene
prenatal oligohydramnios
congenitally bilateral renal hypodysplasia
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.1020536/full

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https://www.frontiersin.org/articles/10.3389/fped.2022.1020536/full

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