Walker–Warburg syndrome (WWS) is a rare, lethal, genetically, and clinically heterogeneous congenital muscular dystrophy resulting from defective glycosylation of α-dystroglycan (α-DG) and is associated with both cranial and ocular malformations. Prenatal detection of posterior fossa anomalies in association with hydrocephalus are nonspecific, however, an additional finding of eye anomalies are typical for WWS. The purpose of this report is to elucidate the pattern of associated malformations in a fetus with WWS born to 3rd degree consanguineously married couple. Additionally, the fetal ultrasonography revealed congenital heart disease, clenched hands, and talipes equinovarus; these findings have not been previously reported and represent an expansion of prenatal spectrum associated with WWS. We report on a specific sonographic pattern of congenital anomalies including hydrocephalus, agenesis of corpus callosum, and Dandy–Walker malformation. Ocular abnormalities include microphthalmia, cataract, and an echoic structure suggestive of persistent primary vitreous. Other features include congenital heart disease, unilateral multicystic kidney, and previously unreported findings of bilateral clenched hands and talipes equinovarus. The molecular analysis detected a homozygous splicing mutation, c.924-2A>C, in the POMT2 gene; this variant segregated with the phenotype. WWS syndrome has characteristic prenatal ultrasound findings which can improve the prenatal identification of this condition and help in guiding the molecular diagnosis and counseling. The detection of bilateral clenched hands and talipes equinovarus is a novel finding that further expands the phenotypic spectrum of WWS.

中文翻译：

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具有 POMT2 突变的 Walker-Warburg 综合征的产前表现：延长的胎儿表型

Walker-Warburg 综合征 (WWS) 是一种罕见的、致命的、遗传的、临床上异质性的先天性肌营养不良症，由α-肌营养不良症 (α-DG) 糖基化缺陷引起，并与颅骨和眼部畸形有关。与脑积水相关的后颅窝异常的产前检测是非特异性的，但是，眼部异常的另一个发现是 WWS 的典型特征。本报告的目的是阐明 3 度近亲结婚的 WWS 胎儿相关畸形的模式。此外，胎儿超声检查显示先天性心脏病、握紧双手和马蹄内翻；这些发现以前没有报道过，代表了与 WWS 相关的产前范围的扩大。我们报告了先天性异常的特定超声模式，包括脑积水、胼胝体发育不全和 Dandy-Walker 畸形。眼部异常包括小眼症、白内障和提示持续性原发性玻璃体的回声结构。其他特征包括先天性心脏病、单侧多囊肾，以及先前未报道的双侧握紧手和马蹄内翻的发现。分子分析检测到POMT2基因存在纯合剪接突变c.924-2A>C；该变体与表型分离。WWS综合征具有特征性的产前超声检查结果，可以提高对该病的产前识别，有助于指导分子诊断和咨询。