Case Report: Beckwith–Wiedemann syndrome with reduced H19 expression
This case underscores the diagnostic value of methylation testing in BWS, especially when the copy number is normal. Infants with macrosomia, macroglossia, and umbilical hernia should be evaluated for BWS. Long-term multidisciplinary follow-up, including tumor surveillance and cardiac monitoring, is essential for improving prognosis and quality of life.
Authors
- Xuening Niu
- Jikui Deng (ORCID: https://orcid.org/0000-0002-0040-1491)
- Shan Xing
- Meng Wang (ORCID: https://orcid.org/0000-0002-3457-5908)
Institutions
- Tianjin Children's Hospital (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-11-04
- DOI
- https://doi.org/10.3389/fped.2025.1690760
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00