ArticleCase reports in obstetrics and gynecology2026
Prenatal Diagnosis of Keratitis-Ichthyosis-Deafness Syndrome With Dandy Walker Malformation: A Case Report.
Article in Case reports in obstetrics and gynecology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Prenatal Diagnosis of Keratitis-Ichthyosis-Deafness Syndrome With Dandy Walker Malformation: A Case Report.Case reports in obstetrics and gynecology · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Keratitis-ichthyosis-deafness (KID) syndrome is a rare disorder characterized by progressive vascularizing keratitis, ichthyosiform erythrokeratoderma, and neurosensory hearing loss. It is caused by missense mutations in the GJB2 gene. Its known association with Dandy-Walker malformation (DWM), a developmental anomaly of the posterior cranial fossa, has only been described once antenatally. Case Presentation: We report a case of a fetus with a DWM seen in neurosonography and fetal MRI. A whole exome sequencing revealed a heterozygous D50N mutation of the GJB2 gene, diagnosing KID syndrome. Postnatal findings demonstrated an erythrokeratoderma consistent with KID syndrome. Conclusion: This case supports a pathophysiologic link between D50N-GJB2 mutations and DWM. It also highlights the importance of genetic testing in cases of isolated DWM. Further research is required to elucidate the pathophysiological mechanisms underlying the association between KID syndrome and DWM.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.