5个Van der Woude综合征的家系调查和遗传特点分析

目的:探讨中国人Van der Woude综合征(VWS)的临床表型及遗传学特点。方法:先证者法收集5个VWS家系并进行口腔专科检查和家系调查,分析不同VWS家系个体或同一家系不同个体的临床表型,绘制家系图谱,明确可能的遗传方式。结果:5个VWS家系基本符合常染色体显性遗传特征,患者多数表现为典型的VWS症状,个别患者表现为罕见的唇瘘微型。不同家系个体和同一家系的不同个体临床表型存在明显差异。结论:收集的5个家系均为常染色体显性VWS,且疾病的外显率高,表现度变异大。

Clinical and Genetic Features in Five Chinese Kindreds with Van der Woude Syndrome

Objective: To investigate the clinical and genetic features of Van der Woude syndrome in Chinese families. Methods: Five pedigrees wer e collected through the identified probands. Careful oral examinations were take n by two dentists. Clinical manifestations between and within each family were r ecorded. Possible inheritance modes were analysed. Results: Of the five pedigrees investigated, an autosomal dominant inheritance pattern was s uggested. All patients had typical sympotoms, some affected individuals had micr oform of the lip pits, and however, the phenotype of different patients was dist inguishable. Conclusion: In our study, Van der Woude syndrome i s dominantly inherited with high penetrance and variable expressivity.