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PMID: 1336932 Published · ppublish English Case Reports Journal Article

Bannayan-Riley-Ruvalcaba syndrome.

American journal of medical genetics ·Vol. 44 ·No. 3 ·1992-10-01 ·Pages 307-14

Gorlin RJ, Cohen MM, Condon LM, Burke BA

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.

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
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Gorlin R J
Department of Oral Science, University of Minnesota, Minneapolis.
Cohen M M
Condon L M
Burke B A
Article Info
Journal
American journal of medical genetics
Abbr.
Am J Med Genet
ISSN
0148-7299
Published
1992-10-01
Pages
307-14
Language
English
Region
United States
NLM ID
7708900
Subset
IM
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