Carmant Laurence S, Miller Elka, Blaser Susan, Shannon Patrick, Chong Karen, Chitayat David, Shinar Shiri
Department of Obstetrics and Gynaecology, Division of Maternal Fetal Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada.
Department of Diagnostic and Interventional Radiology, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
Prenat Diagn. 2025 May;45(5):686-692. doi: 10.1002/pd.6786. Epub 2025 Apr 7.
Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is a rare autosomal dominant disorder characterized by craniofacial dysmorphism, broad halluces and thumbs, variable structural abnormalities and intellectual disability. It is caused by a pathogenic variant in the CREBBP or EP300 genes. Although distinctive features are described, prenatal diagnosis is rare. We report five prenatally diagnosed cases of RSTS, all with brain abnormalities. On neurosonography, corpus callosum abnormalities were found in 3/5 cases. The remaining two cases had abnormal posterior fossas, one with vermian hypoplasia and the other with Dandy-Walker malformation (DWM). A CREBBP gene mutation was identified in all cases-two on microarray (CMA) and three on Trio-whole-exome-sequencing (Trio-WES). This report will allow for a better understanding of the fetal brain findings associated with RSTS.
鲁宾斯坦-泰比综合征（RSTS；OMIM 180849）是一种罕见的常染色体显性疾病，其特征为颅面畸形、拇趾和拇指宽阔、结构异常多样以及智力残疾。它由CREBBP或EP300基因的致病性变异引起。尽管有独特特征的描述，但产前诊断很少见。我们报告了5例产前诊断的RSTS病例，均有脑部异常。在神经超声检查中，5例中有3例发现胼胝体异常。其余2例后颅窝异常，1例为小脑蚓部发育不全，另1例为丹迪-沃克畸形（DWM）。所有病例均鉴定出CREBBP基因突变——2例通过微阵列（CMA）检测到，3例通过三联全外显子测序（Trio-WES）检测到。本报告将有助于更好地了解与RSTS相关的胎儿脑部表现。
