ArticleSAGE open medical case reports2024
Congenital hiatal hernia with vermis hypoplasia, dysmorphic features and negative genetic study: A case report.
Article in SAGE open medical case reports, 2024. 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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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.
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Authors and funding
7 authors.
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Abstract
Congenital hiatal hernia is a rare congenital defect and often occurs at a sporadic basis, but familial cases have also been reported. Here, we report on a 3-year-old male patient of Middle-Eastern descent, diagnosed at 5 months of age patient presenting with a congenital hiatal hernia, vermis hypoplasia manifested by axial hypotonia and horizontal nystagmus, preauricular tag, and dysmorphic features with negative genetic mutations, not fitting any reported association or syndrome, suggesting the potential existence of a novel disease entity and highlighting the necessity for further exploration into rare genetic conditions for comprehensive patient care and syndrome characterization.
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Registered trials
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