关键词: Snijders Blok-Campeau综合征； CHD 3基因； 全面性发育迟缓

Abstract: Objective To improve the understanding of clinical phenotype and genotype of Snijders Blok-Campeau syndrome. Methods Clinical data, whole exome sequencing and CNV-Seq results of a case of Snijders Blok-Campeau syndrome were retrospectively analyzed; and relevant literatures in CNKI, Wanfang data knowledge service platforms and PubMed were summarized and analyzed. Results A 13 -month old girl presented with comprehensive developmental delays, small palpebral fissure, ocular hypertelorism, wide bridge of the nose, sparse eyebrows and low ear-setExome, sequencing and CNV-Seq test found a de novo missense variant of c.3709T>C ( p.F1237L ) in CHD3 gene, which has not been reported in the Human Gene Mutation Database and ClinVar. A total of 61 patients with Snijders Blok-Campeau syndrome were found in literatures and 47 patients were found with de novo mutations, and most of which were missense mutations. The common clinical phenotypes of the patients are developmental retardation, mental retardation, speech retardation, hypotonia and unique facial features. Conclusion A novel variant of c. 3709 T>C in CHD3 gene that causes Snijders Blok-Campeau syndrome was identified. A variety of CHD3 gene variants can lead to Snijders Blok-Campeau syndrome, the patient's unique facial features and genetic testing can contribute to the diagnosis.