目的 提高对 Snijders Blok-Campeau 综合征（SBCS）临床表型及基因型的认识。方法 回顾分析 1 例 SBCS 患儿的临床资料、全外显子组及 CNV-seq 检测结果，检索 CNKI、万方数据知识服务平台、PubMed 中的相关文 献并进行总结分析。结果 患儿，女，13 月龄，全面性发育迟缓，有特殊面容（眼裂小、眼距宽、鼻梁宽、眉毛稀疏、耳 位低）。全外显子组及 CNV-seq 检测发现患儿 CHD 3 基因存在错义变异 c. 3709 T>C（p.F 1237 L），经双亲验证为新 生变异，未在 HGMD、ClinVar 数据库中收录，与 SBCS 相关。检索到 SBCS 相关文献 4 篇共 61 例患者，47 例为新发变 异，多为错义变异。患者的临床表型相似，主要表现为发育迟缓、智力障碍、言语迟缓、张力减退和独特面部特征。 结论 发现致SBCS新的CHD 3基因c. 3709 T>C变异。多种CHD 3基因变异可致SBCS，面部特征和基因检测有助于 诊断。

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.