Abstract：
As a clinical subtype of SWI/SNF-related intellectual disability syndromes, Nicolaides-Baraitser syndrome (NCBRS, OMIM601358) has a unique genotype-phenotype. Due to the scarcity of the number of cases reported and the limitations of diagnosis methods, so far only more than 80 cases have been reported worldwide. In this article, a new patient with a de novo mutation was followed up for 10 years; it includes the epilepsy treatment process, the characteristics of NBCRS with seizures, typical faces, sparse hair, prominent interphalangeal joints, and intellectual disability, and we also summarized the genotype-phenotype of the 80 reported cases for comparison. Due to insufficient studies and lack of attention paid to the syndrome, it is believed that the actual number of cases should be far more than the reported number. The syndrome is phased and progressive. The genotype-phenotype correlation of the disease is related to the location of the gene locus, especially closely related to the SNF2 ATPase domain. CONCLUSIONS: The understanding of NCBRS is lagging, we need to strengthen the screening process of the phenotypic disease with intellectual disability, and perfecting multiple types of diagnostic techniques will help the discovery of the disease; its clinical features are staged and are slowly progressive, and long-term prognosis must be taken precautious with long-term follow-up required.
摘要：
作为SWI/SNF相关智力障碍综合征的临床亚型，Nicolaides-Baraitser综合征（NCBRS，OMIM601358)具有独特的基因型-表型。由于报告病例数的稀缺性和诊断方法的局限性,迄今为止，全世界仅报告了80多例病例。在这篇文章中,对一名新生突变的新患者进行了10年的随访；它包括癫痫的治疗过程，NBCRS与癫痫发作的特征，典型的面孔,稀疏的头发，突出的指间关节，和智力残疾，我们还总结了80例报告病例的基因型表型进行比较。由于研究不足和缺乏对该综合征的关注，据信，实际案件数量应该远远超过报告的数量。该综合征是阶段性和进行性的。该疾病的基因型-表型相关性与基因位点的位置有关，特别是与SNF2ATPase结构域密切相关。结论：对NCBRS的理解滞后，我们需要加强智力障碍表型疾病的筛查过程，完善多种类型的诊断技术将有助于疾病的发现；其临床特征是分期的，并且是缓慢进展的，长期预后必须谨慎，需要长期随访。
