1845年首先由Demarquay提出,Murry在1860年进行了独立的报道,时隔100年后由荷兰医师Van der Woude在1945年进行详细描述,并因此命名,面裂中约2%为该综合征,在白种人中发病率为1:100000~1:35000,我国的发病率目前我正在查阅文献,后期会补上。一:发病基因 常染色体显性遗传,外显率为0.89~0.99(母女子三
1. 综合征 唇窝综合征(van der Woude syndrome): irf6雌激素抗性 (Estrogen resistance): esr1 次黄苷三磷酸酶缺陷 (Inosine triphosphatas… www.eiaab.cn|基于4个网页 2. 范德沃德氏综合征 ...,为上皮发育角质细胞增殖-分化开关的一个关键决定因子。该因子基因突变可导致范德沃德氏综合征(van der Woude syn...
Van der Woude综合征(VWS)是一种少见的颌面畸形,又称唇瘘、腭裂及唇裂综合征。其特征是家族性下唇瘘复合唇裂或腭裂,患者通常智力正常,可伴有缺牙。VWS为常染色体显性遗传,致病基因定位于1q32-q41,在人群中的发病率为1/30 000~3/30 000,后代基因携带率为50%, 著录项 来源 《口腔医学》 |2013年第4期|286...
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van der Woude syndrome is an autosomal dominant syndrome characterized by a cleft lip or cleft palate, distinctive pits of the lower lips, or both. It is the most common syndrome associated with cleft lip or cleft palate.
Given the similarities between Van der Woude syndrome and isolated cleft of the lip and/or palate, the current study was designed to evaluate the pattern of cognitive function in adults with Van der Woude syndrome.关键词: Van der Woude syndrome Cleft lip and/or palate Cognitive function ...
Van der Woude syndrome (VWS) is a dominantly inherited syndrome characterised by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate [1]. With a prevalence of 1 in 100,000 to 1 ...
Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic mutations in interferon regulatory factor 6 between two large geographically distinct ...
van der Woude syndrome is an autosomal dominant syndrome characterized by a cleft lip or cleft palate, distinctive pits of the lower lips, or both. It is the most common syndrome associated with cleft lip or cleft palate.