This study reports one case of Kabuki syndrome (KS) accompanied by a new mutation in the KMT2D gene and concurrent congenital pulmonary airway malformation (CPAM). After birth, the child demonstrated delayed physical growth and neurological, psychological, and intellectual development. Notable facial features included arched eyebrows and elongated eyelids toward the lower side. Chest computed tomography revealed pulmonary airway malformation. Whole-exome high-throughput sequencing revealed a novel heterozygous missense mutation in the KMT2D gene, Exon38c.10481C>T (p.Pro3494Leu), a possible pathogenic mutation that has not been previously reported. Both parents were wild-type. The clinical manifestations of KS are complex; however, cases with concomitant CPAM have rarely been reported. This study elucidates the mutation spectrum of the KS gene and the clinical characteristics of KS patients.
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