Winship I, Young K, Martell R, Ramesar R, Curtis D, Beighton P
MRC Research Unit for Inherited Skeletal Disorders, University of Cape Town, South Africa.
Clin Genet. 1991 May;39(5):330-7. doi: 10.1111/j.1399-0004.1991.tb03039.x.
Piebaldism is a disorder in which the major clinical features are patchy hypopigmentation of the skin and a white forelock. The manifestations of piebaldism overlap with those of other genodermatoses, in particular the Waardenburg syndrome, and it is uncertain whether piebaldism is a distinct entity. We have documented a family in which seven affected members in three generations have gross piebaldism without any additional stigmata. The intrafamilial phenotypic consistency is suggestive that this autosomal dominant disorder has independent syndromic status. Linkage studies using conventional gene markers failed to identity the locus of the faulty gene.
斑驳病是一种主要临床特征为皮肤片状色素减退和白色额发的疾病。斑驳病的表现与其他遗传性皮肤病，特别是瓦登伯革氏综合征的表现重叠，目前尚不确定斑驳病是否是一个独立的病种。我们记录了一个家族，三代中有7名患病成员患有严重的斑驳病，无任何其他特征。家族内表型的一致性提示这种常染色体显性疾病具有独立的综合征状态。使用传统基因标记进行的连锁研究未能确定缺陷基因的位点。
