Duplicated, Translocated Upper Lip and Maxilla: An Extremely Rare Congenital Craniofacial Anomaly With Novel Genetic Findings

Our preliminary findings and comprehensive literature review suggest that mutations in the PAX7 gene could contribute to the pathogenesis of craniofacial duplication. This hypothesis establishes a previously unrecognized association between specific genetic alterations and the clinical manifestations of this condition, potentially offering a molecular foundation for prenatal diagnostic approaches. The present case provides more profound insights into the disease mechanisms compared to prior reports. Further validation through basic scientific investigations and clinical studies, incorporating comprehensive genetic analyses, will be essential to substantiate this proposed mechanism.