Abstract
Introduction: Split Hand/Foot Malformation (SHFM) is a rare congenital disorder often linked to genetic duplications that disrupt normal limb development. Case report: Here, we present a novel case of SHFM associated with a 10q24.32 microduplication, identified through prenatal diagnosis. This microduplication includes genes essential for limb development, illustrating the complex genetic mechanisms underlying this malformation. The fetus exhibited severe malformations in both hands and feet, in contrast to the mild phenotype observed in the mother, who carries the same microduplication. Conclusion: This case enhances our understanding of the genetic basis of SHFM and highlights the critical role of comprehensive genetic analysis in prenatal diagnostics.
Published Version
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