Abstract：
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a variable multiple congenital anomaly condition, typically presenting postnatally with neurocognitive delays, distinctive facial features, cortical brain malformations, and in some, a variety of additional congenital malformations. However, only a few cases have reported the prenatal presentation of this syndrome. Here, we report two cases of BWCFF and their associated prenatal findings. One case presented with non-immune hydrops fetalis and a horseshoe kidney and was found to have a de novo heterozygous variant in ACTB (c.158A>G). The second case presented with gastroschisis, bilateral cleft lip and palate, and oligohydramnios, and was found to harbor a different de novo variant in ACTB (c.826G>A). Limited reports exist describing prenatally identified anomalies that include fetal growth restriction, increased nuchal fold, bilateral hydronephrosis, rocker bottom foot, talipes, cystic hygroma, omphalocele, and hydrops fetalis. In addition, only three of these cases have included detailed prenatal imaging findings. The two prenatal cases presented here demonstrate an expansion of the prenatal phenotype of BWCFF to include gastroschisis, lymphatic involvement, and oligohydramnios, which should each warrant consideration of this diagnosis in the setting of additional anomalies.
摘要：
Baraitser-Winter脑额面部综合征（BWCFF）是一种可变的多发性先天性异常情况，通常在出生后出现神经认知延迟，独特的面部特征，大脑皮层畸形,在某些情况下,各种额外的先天性畸形。然而,只有少数病例报告了这种综合征的产前表现。这里,我们报告了2例BWCFF及其相关的产前发现。一例出现非免疫性胎儿水肿和马蹄肾，发现ACTB中具有从头杂合变体（c.158A>G）。第二个病例表现为腹裂，双侧唇腭裂，和羊水过少，并被发现在ACTB中含有不同的从头变体(c.826G>A)。有限的报告描述了产前确定的异常，包括胎儿生长受限，颈部褶皱增加，双侧肾积水,摇杆底脚,talipes,囊性水瘤,脐膨出,和胎儿水肿。此外,这些病例中只有3例纳入了详细的产前影像学检查结果.这里介绍的两个产前病例表明BWCFF的产前表型扩展到包括腹裂，淋巴受累,和羊水过少，每个人都应该在其他异常情况下考虑这种诊断。
