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.

ABSTRACT:

Introduction

Xia-Gibbs syndrome (OMIM 615829) is a rare developmental disorder, caused by heterozygous de novo variants in the AHDC1 gene. Hallmark features include global developmental delay, facial dysmorphisms, and behavioral problems. To date, more than 250 individuals have been diagnosed worldwide.

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

SUBMITTER: Baga M 

PROVIDER: S-EPMC10862326 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature