ArticleClinical case reports2026
Fetal Presentation of Walker-Warburg Syndrome With a Novel POMT1 Splice-Altering Variant: Antenatal Imaging, Postmortem MRI, Autopsy, and Molecular Correlation.
Article in Clinical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Walker-Warburg syndrome (WWS) is a fatal autosomal recessive disorder characterized by brain and eye malformations, and prenatal diagnosis relies heavily on neuroimaging findings to guide targeted genetic screening. Here, we describe a distinctive second-trimester fetal imaging pattern observed in two siblings. In vivo and postmortem fetal magnetic resonance imaging demonstrated hydrocephalus, fused ventricles, hypoplastic cerebellar hemispheres, a small supraoccipital meningoencephalocele, and a recurrent hypoplastic 'Z'-shaped brainstem configuration. Whole-exome sequencing identified a homozygous deletion in POMT1 (c.123-11_123-5del), confirmed by Sanger sequencing, and RNA sequencing suggested reduced expression of exon 3. Recognition of a 'Z'-shaped brainstem on fetal MRI should raise strong suspicion for WWS associated with POMT1 mutations, prompting integrated pathological assessment and genetic testing, particularly when there is a positive family history.
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