Bannayan-Riley-Ruvalcaba syndrome

R. J. Gorlin; M. M. Cohen; L. M. Condon; B. A. Burke

doi:10.1002/ajmg.1320440309

Bannayan-Riley-Ruvalcaba syndrome

R. J. Gorlin, M. M. Cohen, L. M. Condon, B. A. Burke

Research output: Contribution to journal › Article › peer-review

244 Citations (Scopus)

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.

Original language	English
Pages (from-to)	307-314
Number of pages	8
Journal	American Journal of Medical Genetics
Volume	44
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.1320440309
Publication status	Published - 1992
Externally published	Yes

ASJC Scopus Subject Areas

Genetics(clinical)

PubMed: MeSH publication types

Case Reports
Journal Article

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10.1002/ajmg.1320440309

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title = "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.",

author = "Gorlin, {R. J.} and Cohen, {M. M.} and Condon, {L. M.} and Burke, {B. A.}",

year = "1992",

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T1 - Bannayan-Riley-Ruvalcaba syndrome

AU - Gorlin, R. J.

AU - Cohen, M. M.

AU - Condon, L. M.

AU - Burke, B. A.

PY - 1992

Y1 - 1992

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AB - 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.

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JF - American Journal of Medical Genetics

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ER -

Bannayan-Riley-Ruvalcaba syndrome

Abstract

ASJC Scopus Subject Areas

PubMed: MeSH publication types

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