摘要目的:分析1例因反应迟钝就诊的3月龄女婴的临床及分子遗传学特征。方法:对患儿进行基因检测，并将患儿的表型与 KAT6B基因变异相关的两种综合征的主要特征进行比较。 结果:患儿具有手指/脚趾长、面具脸、睑裂短小、睑下垂、泪道异常等特征，其 KAT6B基因第16外显子存在新发杂合致病变异c.3040C>T(p.Gln1014*)，与Say-Barber-Biesecker-Young-Simpson(SBBYSS)综合征的特征相符。 结论:患儿被诊断为SBBYSS综合征，但也具有部分独特的表现。本病例的发现扩大了Say-Barber-Biesecker-Young-Simpson综合征的表型及变异谱。

abstractsObjective:To analyze the genotype and clinical phenotype of a 3-month-old female infant featuring unresponsiveness.Methods:The infant was subjected to genetic testing, and her clinical features were compared with syndromes associated with variants of the candidate gene.Results:The patient has featured long fingers, long and overlapped toes, musk-like face, blepharophimosis, ptosis, and lacrimal duct anomaly. She was found to harbor a heterozygous de novo variant NM_012330.3: c. 3040C>T (p.Gln1014*) in exon 16 of the KAT6B gene. Her clinical phenotype and genotype have both conformed to Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS). Conclusion:The child was diagnosed with SBBYSS syndrome due to the c. 3040C>T (p.Gln1014*) variant of the the KAT6B gene. Discovery of the unique features has expanded the phenotypic spectrum of this syndrome.