PDF(Pubmed)
Abstract：
Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder caused by pathogenic variants in the MAGEL2 gene. It is usually a postnatal diagnosis in infants with muscular hypotonia and feeding difficulties. There are no cases diagnosed antenatally. During pregnancy, the most common findings reported are polyhydramnios and decreased fetal movements, which are relatively common and unspecific.We present one case of fetal clubfoot and clinodactyly in a fetus postnatally diagnosed with SYS, as well as a brief review of the prenatal findings associated with this syndrome.
摘要：
Schaaf-Yang综合征（SYS）是由MAGEL2基因的致病变异引起的一种罕见的神经发育障碍。通常是产后诊断为肌张力减退和喂养困难的婴儿。没有产前诊断的病例。在怀孕期间,据报道，最常见的发现是羊水过多和胎动减少，这是相对常见和不具体的。我们在出生后诊断为SYS的胎儿中介绍了一例胎儿马蹄内翻足和临床畸形，以及与该综合征相关的产前发现的简要回顾。
