目的:探讨一例Sifrim-Hitz-Weiss综合征(Sifrim-Hitz-Weiss syndrome, SIHIWES)患儿的基因型与表型的对应关系。方法:收集先证者及其父母的外周血样，提取基因组DNA，采用全外显子测序对先证者进行检测，并应用Sanger测序对先证者及父母进行验证。结果:先证者为一例2岁女性患儿，表现为全面发育迟缓、智力障碍、特殊面容等。其产前表现为NT增厚，颅面部异常和胎动减少等。全外显子测序发现患儿n CHD4基因发生了致病性变异NM_001273：c.2989C>G(p.Leu997Val)(GRCh37/hg19)。与以往报道的SIHIWES的临床表型相比，该患儿产前临床特征未有描述，而产后某些新的表型包括眼底检查结果和某些特殊面容如左右耳不对称、眼睑下垂、长人中和嘴角下斜等也呈现出来。n 结论:本文研究结果扩展了n CHD4基因变异谱，并丰富了SIHIWES的临床表型谱。n “,”Objective:To explore the genotype-phenotype correlation of a case with Sifrim-Hitz-Weiss syndrome (SIHIWES) caused by a novel n CHD4 gene variant.n Methods:Genomic DNA was extracted from peripheral blood samples of the patient and her parents. Whole-exome sequencing (WES) was carried out for the patient.Suspected variant was verified by Sanger sequencing.Results:The proband, a 2-year-old Chinese girl, presented with global developmental delay, intellectual disability, distinctive facial features and multiple congenital anomalies.Her prenatal manifestations included increased nuchal thickness, cranial and facial anomalies, and decreased fetal movement. WES has identified a novel variant in the n CHD4 gene, namely NM_001273: c.2989C>G (p.Leu997Val) (GRCh37/hg19). Comparison of her phenotype with previously reported SIHIWES cases suggested that our patient’s prenatal presentations were unreported before, with novel features including funduscopic anomaly, facial dysmorphisms such as asymmetrical ears, drooping eyelid, long philtrum and downturned mouth.n Conclusion:Above findings have expanded the mutational spectrum of the n CHD4 gene and revealed novel phenotypes in Chinese patients with SIHIWES.n