Bannayan-Riley-Ruvalcaba syndrome

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Carcinoma, Hepatocellular* / genetics
  • Churg-Strauss Syndrome* / genetics
  • Female
  • Humans
  • Lipoma* / genetics
  • Liver Neoplasms / genetics
  • Male
  • Pedigree
  • Skull / abnormalities*
  • Syndrome
  • Thyroiditis, Autoimmune* / genetics