Fetal Presentation of Walker–Warburg Syndrome With a Novel POMT1 Splice‐Altering Variant: Antenatal Imaging, Postmortem MRI, Autopsy, and Molecular Correlation
Jing Zhang, Pin Wang, Gan Tian, Yu Hu, Xin Zhang, Xiang Huang, Xiaoqiang Zhou, Peng Huang, Fengying Chen · 2026
Read Fetal Presentation of Walker–Warburg Syndrome With a Novel POMT1 Splice‐Altering Variant: Antenatal Imaging, Postmortem MRI, Autopsy, and Molecular Correlation by Jing Zhang, Pin Wang, Gan Tian, Yu Hu, Xin Zhang, Xiang Huang, Xiaoqiang Zhou, Peng Huang, Fengying Chen (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13181150.txt.
Description
Zhang and eight co-authors report two siblings with Walker-Warburg syndrome found before birth. The 2026 case study links scans, autopsy, and gene tests. The disorder harms the brain and eyes and is fatal. Early signs on scans guide which gene tests to run.
Scans showed fluid on the brain, fused chambers, and a small hernia at the skull base. Both fetuses shared a bent, Z-shaped brainstem. Gene tests found a splice change in POMT1 in both copies. RNA tests hinted the gene's third exon was read less. The team urges that the bent brainstem prompt gene testing, above all with a family history.
Catalog record
| CREATOR | Jing Zhang, Pin Wang, Gan Tian, Yu Hu, Xin Zhang, Xiang Huang, Xiaoqiang Zhou, Peng Huang, Fengying Chen |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 20 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |