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

• Main Authors: Fengdan Xu (Author), Qi Peng (Author), Xiaoguang He (Author), Xiaolan Chen (Author), Shuanglan Jiang (Author), Xiaomei Lu (Author), Ning Li (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...