该文报道1例临床罕见的染色体19p13.3微缺失所致的心-面-皮肤综合征（cardiofaciocutaneous syndrome, CFCS）患儿并文献复习。该例患儿临床表现为特殊面容、身材矮小、精神运动发育迟缓、大头畸形和心脏异常等多发异常，行全外显子组测序发现患儿染色体19p13.3存在1 040 kb杂合缺失，评级为致病性变异。该例是国内首例报道的功能缺失变异导致的CFCS患儿，丰富了CFCS的基因型特征；对于CFCS患儿应加强认识，结合其临床表现，早期识别，进行基因检测协助诊断。

This article reports a child with cardioaciocutaneous syndrome (CFCS) caused by a rare microdeletion of chromosome 19p13.3, and a literature review is conducted. The child had unusual facies, short stature, delayed mental and motor development, macrocephaly, and cardiac abnormalities. Whole-exome sequencing identified a 1 040 kb heterozygous deletion in the 19p13.3 region of the child, which was rated as a "pathogenic variant". This is the first case of CFCS caused by a loss-of-function mutation reported in China, which enriches the genotype characteristics of CFCS. It is imperative to enhance the understanding of CFCS in children. Early identification based on its clinical manifestations should be pursued, and genetic testing should be performed to facilitate diagnosis.