Case Reports
doi: 10.1002/ajmg.1320440309.
Bannayan-Riley-Ruvalcaba syndrome
Affiliations
- PMID: 1336932
- DOI: 10.1002/ajmg.1320440309
Item in Clipboard
Case Reports
Bannayan-Riley-Ruvalcaba syndrome
Am J Med Genet.
.
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.
Similar articles
-
Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome.Arch Dermatol. 1996 Oct;132(10):1214-8. Arch Dermatol. 1996. PMID: 8859033
-
Macrocephaly with hamartomas: Bannayan-Zonana syndrome.Am J Med Genet. 1984 Oct;19(2):225-34. doi: 10.1002/ajmg.1320190204. Am J Med Genet. 1984. PMID: 6507473
-
Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.Epileptic Disord. 2018 Feb 1;20(1):30-34. doi: 10.1684/epd.2018.0954. Epileptic Disord. 2018. PMID: 29444762
-
The hamartomatous polyposis syndromes: a clinical and molecular review.Am J Gastroenterol. 2005 Feb;100(2):476-90. doi: 10.1111/j.1572-0241.2005.40237.x. Am J Gastroenterol. 2005. PMID: 15667510 Review.
-
Bannayan-Zonana syndrome: a rare autosomal dominant syndrome with multiple lipomas and hemangiomas: a case report and review of literature.Surg Neurol. 1998 Aug;50(2):164-8. doi: 10.1016/s0090-3019(98)00039-1. Surg Neurol. 1998. PMID: 9701122 Review.
Cited by
-
PTEN hamartoma tumour syndrome: what happens when there is no PTEN germline mutation?Hum Mol Genet. 2020 Oct 20;29(R2):R150-R157. doi: 10.1093/hmg/ddaa127. Hum Mol Genet. 2020. PMID: 32568377 Free PMC article. Review.
-
PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes.Am J Surg Pathol. 2012 May;36(5):671-87. doi: 10.1097/PAS.0b013e31824dd86c. Am J Surg Pathol. 2012. PMID: 22446940 Free PMC article.
-
The Novel Phosphatidylinositol-3-Kinase (PI3K) Inhibitor Alpelisib Effectively Inhibits Growth of PTEN-Haploinsufficient Lipoma Cells.Cancers (Basel). 2019 Oct 17;11(10):1586. doi: 10.3390/cancers11101586. Cancers (Basel). 2019. PMID: 31627436 Free PMC article.
-
Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants.Fam Cancer. 2022 Oct;21(4):441-451. doi: 10.1007/s10689-022-00289-x. Epub 2022 Jan 25. Fam Cancer. 2022. PMID: 35075588 Free PMC article.
-
Cognitive characteristics of PTEN hamartoma tumor syndromes.Genet Med. 2013 Jul;15(7):548-53. doi: 10.1038/gim.2013.1. Epub 2013 Mar 7. Genet Med. 2013. PMID: 23470840 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Molecular Biology Databases