Genomic analysis of Kabuki syndrome with multiple abnormalities in infancy.

The article focuses on the genomic analysis of Kabuki syndrome (KS) in an infant with multiple abnormalities. Topics discussed include the challenges in clinically diagnosing KS in infants, the importance of whole-exome sequencing (WES) for definitive diagnosis, and the significance of identifying specific complications, such as intestinal malrotation and gallbladder defects, in confirming the diagnosis of KS.