Walker-Warburg综合征(Walker-Warburg syndrome,WWS)是一种最严重的先天性肌营养不良症,其特征是肌肉、大脑及眼睛发育异常,大多数患儿在三岁前死亡。 该综合征由Walker (1942)首次报道,而Warburg ( 1971 , 1976 , 1978 )的报道使其广为人知,故命名为Walker-...
Walker-Warburg Syndrome is a congenital, autosomal-recessive disorder that includes brain, muscle, and eye malformations. Major ocular features are microphthalmia, anterior chamber malformations,cataracts, persistent fetal vasculature, retinal detachment, optic nerve hypoplasia, and colobomas. We report an ...
Walker-Warburg综合征(Walker-Warburg Syndrome, WWS)是一种罕见的、遗传性的神经肌肉疾病,通常在婴儿期发病,表现为严重的脑、眼和肌肉异常。该疾病的病因与多种基因突变有关,其中包括FKTN(Fukutin)基因的突变。针对FKTN相关的Walker-Warburg综合征,基因检测在诊断、遗传咨询和管理方面具有重要作用。以下是一些关于FKTN基...
Walker-Warburg综合征(Walker-Warburg Syndrome)被认为是由于肌营养蛋白-糖蛋白复合物(dystrophin-glycoprotein complex)缺陷所致,该复合物负责横跨骨骼肌细胞的肌膜。这是一种罕见的阳性血源性疾病,发病率为每 10 万活产 1.2 例。 产前诊断...
Walker-Warburg综合征(Walker-Warburg Syndrome, WWS)是一种罕见的先天性肌肉-眼-脑病,主要由基因突变引起。POMT2基因是与WWS相关的一个重要基因。对于POMT2相关的WWS基因检测,主要是检测POMT2基因的突变。 具体来说,基因检测通常包括以下几个方面: 1. :通过DNA测序技术,检测POMT2基因的编码区(外显子)和附近的剪...
Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and eye abnormalities. WWS has a worldwide distribution. The overall incidence is unknown but a survey in North-eastern Italy has reported an incidence rate of 1.2 per 100,000 ...
【别名】沃克-沃伯格综合征(Walker-Warburgsyndrome，WWS)。本征是一种致死性常染色体隐性遗传病，主要影响脑和眼的发育，由Ⅱ型无脑回畸形、小脑和视网膜畸形以及先天性肌萎缩构成的一组症候群。【病因病理】Ⅱ型无脑回畸形特点为球状无脑回(globalagyria)，伴脑积水，小脑半球及蚓部发育不良，但缺乏...
Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and eye abnormalities. WWS has a worldwide distribution. The overall incidence is unknown but a survey in North-eastern Italy has reported an incidence rate of 1.2 per 100,000 ...
【别名】沃克-沃伯格综合征(Walker-Warburgsyndrome,WWS)。本征是一种致死性常染色体隐性遗传病,主要影响脑和眼的发育,由Ⅱ型无脑回畸形、小脑和视网膜畸形以及先天性肌萎缩构成的一组症候群。 【病因病理】Ⅱ型无脑回畸形特点为球状无脑回(globalagyria),伴脑积水,小脑半球及蚓部发育不良,但缺乏作为Ⅰ型和Ⅲ型...
此外,Walker-Warburg综合征也可以发生在没有家族史的情况下,这可能是由于新的基因突变或其他遗传变异引起的。 基因检测加上辅助生殖可以避免将CRPPA相关Walker-Warburg综合征(Walker-Warburg Syndrome, CRPPA-Related)遗传到下一代吗? 基因检测和辅助生殖技术可以帮助夫妇了解他们是否携带CRPPA相关Walker-Warburg综合征的...