Gorlin R J, Cohen M M, Condon L M, Burke B A
Department of Oral Science, University of Minnesota, Minneapolis.
Am J Med Genet. 1992 Oct 1;44(3):307-14. doi: 10.1002/ajmg.1320440309.
Here we report on 12 affected members of a family with Bannayan-Riley-Ruvalcaba syndrome. We present clinical evidence of overlap between Bannayan-Zonana syndrome. Riley-Smith syndrome, and Ruvalcaba-Myhre syndrome in this autosomal dominantly inherited condition. We expand the phenotypic spectrum to include Hashimoto thyroiditis, which occurred in 7 of our cases. Finally, we discuss the relationship between the syndrome and juvenile polyposis of infancy.
在此，我们报告了一个患有班纳扬-莱利-鲁瓦尔卡巴综合征家族的12名患病成员。我们展示了在这种常染色体显性遗传疾病中，班纳扬-佐纳纳综合征、莱利-史密斯综合征和鲁瓦尔卡巴-迈尔综合征之间存在重叠的临床证据。我们将表型谱扩展至包括桥本甲状腺炎，在我们的病例中有7例出现该病症。最后，我们讨论了该综合征与婴儿期幼年性息肉病之间的关系。
