Bannayan-Riley-Ruvalcaba syndrome.

Abstract

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.

• Authors: R J Gorlin, M M Cohen Jr, L M Condon, B A Burke
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 44 Issue 3 Pg. 307-14 (Oct 01 1992) ISSN: 0148-7299 [Print] United States
• PMID: 1336932 (Publication Type: Case Reports, Journal Article)

Topics

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