Bannayan-Riley-Ruvalcaba syndrome.
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.
Gorlin
R J
RJ
Department of Oral Science, University of Minnesota, Minneapolis.
Cohen
M M
MM
Condon
L M
LM
Burke
B A
BA
D000293:Adolescent; D006528:Carcinoma, Hepatocellular / Q000235:genetics; D015267:Churg-Strauss Syndrome / Q000235:genetics; D005260:Female; D006801:Humans; D008067:Lipoma / Q000235:genetics; D008113:Liver Neoplasms / Q000235:genetics; D008297:Male; D010375:Pedigree; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D013967:Thyroiditis, Autoimmune / Q000235:genetics