ArticleMolecular syndromology2024
Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the Literature.
Article in Molecular syndromology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Correction: Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis.European journal of human genetics : EJHG · 2026Article
- Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort.Clinical genetics · 2025Article
- Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis.European journal of human genetics : EJHG · 2025Review
- Xia-Gibbs syndrome in an 18-Year-Old Iranian girl: a case study of clinical features and genetic mutation.Molecular biology reports · 2025Article
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Authors and funding
11 authors at 1 institution in 1 country.
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Abstract
Introduction: Xia-Gibbs syndrome (OMIM 615829) is a rare developmental disorder, caused by heterozygous de novo variants in the Case Report: We report a 13-year-old female who, in association with typical features of Xia-Gibbs syndrome, presented with macrocrania, pes cavus, and conjunctival melanosis. Whole-exome sequencing identified a de novo frameshift variant, which had not been reported in the literature before. Conclusion: We summarized the main clinical and phenotypic features of patients described in the literature, and in addition, we discuss another feature found in our patient and observed in other cases described, eye asymmetry, which has never been highlighted, and suggest that it could be part of the typical clinical presentation of this condition.
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