Burdick A B, Ma L A, Dai Z H, Gao N N
Division of Biological Sciences, University of Missouri, Columbia 65211.
J Craniofac Genet Dev Biol. 1987;7(4):413-8.
We report on two unrelated families from the Beijing area in which the autosomal dominant gene for van der Woude syndrome (VWS) is segregating. The clinical features include paramedian lower lip pits (fistula labii inferioris congenita), cleft palate, and cleft lip with or without cleft palate. All three of the clinical features may occur together in an affected individual, or any two together, or any one as a single feature of an individual who carries the gene. The probands in each of our families also have ankyloglossia. This is the first report of VWS from China.
我们报告了来自北京地区的两个无血缘关系的家族,其中范德伍德综合征(VWS)的常染色体显性基因正在分离。临床特征包括下唇正中凹陷(先天性下唇瘘)、腭裂以及唇裂伴或不伴腭裂。这三种临床特征可能在一个患病个体中同时出现,或者任意两种同时出现,或者任意一种作为携带该基因个体的单一特征出现。我们每个家族的先证者还患有舌系带过短。这是来自中国的关于范德伍德综合征的首例报告。