Abernethy malformation (Type II) presenting in a 6-day-old boy with Noonan syndrome: a case report
In patients with RASopathies, clinicians should maintain a high index of suspicion for AM and NS. Comprehensive vascular evaluation, particularly imaging screening of the portal venous system, is essential to avoid missed diagnoses and ensure timely intervention, thereby improving patient outcomes. A multidisciplinary approach that integrates genetic testing, advanced imaging, and surgical expertise is essential for optimizing outcomes in these complex cases.
Authors
- Youpeng Jin (ORCID: https://orcid.org/0000-0002-6357-2810)
- Wei Wang (ORCID: https://orcid.org/0000-0003-2302-6273)
- Hua Jin (ORCID: https://orcid.org/0000-0002-3753-4044)
- Chun Zhao (ORCID: https://orcid.org/0000-0002-5405-9177)
- Xiaowei Xin (ORCID: https://orcid.org/0000-0002-3216-9375)
- Yi A. Yin (ORCID: https://orcid.org/0000-0003-0963-2672)
- Xiaoru Wang (ORCID: https://orcid.org/0000-0002-8554-8045)
- Yujuan Wang
Institutions
- Shandong University (CN)
- Jinan Maternity And Care Hospital (CN)
- Shandong Provincial Hospital (CN)
- Shandong Maternal and Child Health Hospital (CN)
- Children's Hospital of Chongqing Medical University (CN)
- Shandong First Medical University (CN)
- Chongqing Medical University (CN)
Publication Details
- Journal
- BMC Pediatrics
- Published
- 2025-07-12
- DOI
- https://doi.org/10.1186/s12887-025-05726-1
- Citations
- 1
- Primary Topic
- Protein Tyrosine Phosphatases
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Natural Science Foundation of Shandong Province