First‐trimester features of Fowler syndrome (hydrocephaly–hydranencephaly proliferative vasculopathy)
First‐trimester features of Fowler syndrome (hydrocephaly–hydranencephaly proliferative vasculopathy)
复制标题
福勒综合征（脑积水-脑积水增生性血管病）的妊娠早期特征
DOI：
10.1046/j.1469-0705.2002.00830.x
复制
发表时间：
2002
影响因子：
7.1
通讯作者：
D. Lemery
中科院分区：
文献类型：
--
作者：
H. Laurichesse;A. Beaufrère;A. Martín;A. Kaemmerlen;P. Dechelotte;D. Lemery
我们描述的特点福勒综合征（增生性血管病变和积水性无脑畸形）诊断在孕早期。怀孕没有显着的家族史被称为核型分析和超声检查后，囊状水瘤被视为在12周。在13周时，超声检查显示脑积水-积水性无脑畸形、胎儿运动不能和关节弯曲，并伴有颈部透明性增加。父母选择终止妊娠，胎儿病理检查证实Fowler综合征的诊断。在整个中枢神经系统（包括脑干和脊髓）中观察到钙化坏死性病变和增殖性血管病变。
We describe the features of Fowler syndrome (proliferative vasculopathy and hydrocephaly–hydranencephaly) diagnosed in the first trimester. The pregnancy with no significant family history was referred for karyotyping and ultrasound examination after a cystic hygroma was seen at 12 weeks. At 13 weeks, ultrasound examination revealed hydrocephaly–hydranencephaly, fetal akinesia, and arthrogryposis associated with increased nuchal translucency. The parents opted for termination of pregnancy and the diagnosis of Fowler syndrome was confirmed by pathological examination of the fetus. Calcified necrotic lesions and proliferative vasculopathy were observed in the entire central nervous system including the brainstem and spinal cord.