Baraitser‐Winter cerebrofrontofacial syndrome (BWCFF) is a rare autosomal dominant developmental disorder associated with missense mutations in the genes ACTB or ACTG1. The classic presentation of BWCFF is discerned by the combination of unique craniofacial characteristics including ocular coloboma, intellectual disability, and hypertelorism. Congenital contractures and organ malformations are often present, including structural defects in the brain, heart, renal, and musculoskeletal system. However, there is limited documentation regarding its prenatal presentation that may encourage healthcare providers to be aware of this disorder when presented throughout pregnancy. Herein we describe a case of a pregnancy with large cystic hygroma and omphalocele. Whole exome sequencing (WES) was performed and a de novo, heterozygous, likely pathogenic mutation in ACTB was detected, c.1004G>A (p.Arg335His), conferring a diagnosis of BWCFF.

中文翻译：

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使用外显子组测序进行产前表现和Baraitser-Winter综合征的诊断。

Baraitser-Winter脑前额叶综合征（BWCFF）是一种罕见的常染色体显性遗传发育障碍，与ACTB或ACTG1基因的错义突变相关。BWCFF的经典表现可通过独特的颅面特征（包括眼球状结肠癌，智力障碍和高智主义）来辨别。先天性挛缩和器官畸形经常出现，包括脑，心脏，肾脏和肌肉骨骼系统的结构缺陷。但是，关于其产前表现的文献有限，可能会鼓励医疗保健提供者在整个怀孕期间表现出这种疾病。在本文中，我们描述了一个怀孕的案例，该案例有大的囊性湿疹和卵母囊肿。进行了全外显子组测序（WES），并在ACTB中检测到了新的，杂合的，可能的致病突变，c.1004G> A（p.Arg335His），从而诊断出BWCFF。