Familial multiple fetal cerebral arteriovenous malformations: a case report of maternal genetic susceptibility and fetal manifestation
This case strengthens the link between familial ENG-mediated HHT and fetal cerebral AVMs, underscores the value of targeted third-trimester neurosonography in at-risk pregnancies, and clarifies variant-level evidence supporting causality.
Authors
- Yanlin Chen (ORCID: https://orcid.org/0009-0005-1720-483X)
- Yue Jiang (ORCID: https://orcid.org/0000-0003-0024-0605)
- Gongli Chen
- Hao Wang
Institutions
- Chongqing Science and Technology Commission (CN)
- Children's Hospital of Chongqing Medical University (CN)
- Chongqing Municipal Health Commission (CN)
- Chongqing Medical University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2026-01-04
- DOI
- https://doi.org/10.3389/fgene.2025.1570754
- Primary Topic
- Vascular Anomalies and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00