{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T11:33:00Z","timestamp":1784287980781,"version":"3.55.0"},"reference-count":81,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4632,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Here we report on 12 affected members of a family with Bannayan\u2010Riley\u2010Ruvalcaba syndrome. We present clinical evidence of overlap between Bannayan\u2010Zonana syndrome. Riley\u2010Smith syndrome, and Ruvalcaba\u2010Myhre 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. \u00a9 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320440309","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:21:52Z","timestamp":1118506912000},"page":"307-314","source":"Crossref","is-referenced-by-count":244,"title":["Bannayan\u2010Riley\u2010Ruvalcaba syndrome"],"prefix":"10.1002","volume":"44","author":[{"given":"Robert J.","family":"Gorlin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"M. Michael","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lawrence M.","family":"Condon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara A.","family":"Burke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(70)80414-0"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1542\/peds.57.4.535","article-title":"Benign familial macrocephaly: Report of a family and review of the literature","volume":"57","author":"Asch AJ","year":"1976","journal-title":"Pediatrics"},{"key":"e_1_2_1_4_1","first-page":"1","article-title":"Lipomatosis, angiomatosis and macroencephalia: A previously undescribed congenital syndrome","volume":"92","author":"Bannayan GA","year":"1971","journal-title":"Arch Pathol"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.141.4.661"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1148\/95.3.611"},{"key":"e_1_2_1_7_1","unstructured":"CanavanMM EisenhardtL(1942):The Brains of Fifty Insane Criminals: Shapes and patterns. Boston:1\u2013222."},{"key":"e_1_2_1_8_1","first-page":"64A","article-title":"Lipid storage myopathy associated with Ruvalcaba\u2010Myhre\u2010Smith syndrome: Treatment with carnitine","volume":"39","author":"Christian CL","year":"1991","journal-title":"Clin Res"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-751860-2.50017-6"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350231"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410128"},{"key":"e_1_2_1_12_1","doi-asserted-by":"crossref","first-page":"1566","DOI":"10.1016\/S0016-5085(19)30517-7","article-title":"Hereditary generalized polyposis associated with pulmonary arteriovenous malformation","volume":"78","author":"Cox KL","year":"1980","journal-title":"Gastroenterology"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.54.7.512"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196208092670601"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.22.6.634"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(86)90072-X"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350232"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.1.46"},{"key":"e_1_2_1_19_1","unstructured":"DiLibertiJH BuddenS(1988):Transient motor asymmetry in young children with the Ruvalcaba\u2010Myhre\u2010Smith syndrome. Ninth Annual David W. Smith Workshop on Malformations and Morphogenesis Oakland CA August 3\u20137."},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150315"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180120"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-19-9-1121"},{"key":"e_1_2_1_23_1","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1542\/peds.81.2.287","article-title":"Heredofamilial syndrome of mesodermal hamartomas, macrocephaly and pseudopapilledema","volume":"81","author":"Dvir M","year":"1988","journal-title":"Pediatrics"},{"key":"e_1_2_1_24_1","first-page":"230","article-title":"A case of megalencephaly","volume":"51","author":"Fletcher HM","year":"1900","journal-title":"Trans Path Soc London"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02035107"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03564.x"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(197905)43:5<1906::AID-CNCR2820430548>3.0.CO;2-O"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(88)80037-8"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1988.tb04778.x"},{"key":"e_1_2_1_30_1","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"1990"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1988.tb00880.x"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM195404012501303"},{"key":"e_1_2_1_33_1","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1016\/S0016-5085(82)80398-3","article-title":"Familial juvenile polyposis coli: A clinical and pathologic study of a large kindred","volume":"82","author":"Grotsky HW","year":"1982","journal-title":"Gastroenterology"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(197012)26:6<1232::AID-CNCR2820260609>3.0.CO;2-8"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120405"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150125"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcp\/25.4.399"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02554564"},{"key":"e_1_2_1_39_1","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1542\/peds.69.5.632","article-title":"The Bannayan syndrome: An autosomal dominant disorder consisting of macrocephalY, lipomas, hemangiomas, and a risk for intracranial tumors","volume":"69","author":"Higginbottom MC","year":"1982","journal-title":"Pediatrics"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00347724"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(61)90742-5"},{"key":"e_1_2_1_42_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.6.427"},{"key":"e_1_2_1_43_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2559.1988.tb02093.x"},{"key":"e_1_2_1_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/bjs.18002710612"},{"key":"e_1_2_1_45_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1990.tb01073.x"},{"key":"e_1_2_1_46_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-198502000-00023"},{"key":"e_1_2_1_47_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1981.tb02023.x"},{"key":"e_1_2_1_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(85)80233-X"},{"key":"e_1_2_1_49_1","first-page":"896","article-title":"Juvenile polyposis coli","volume":"57","author":"McColl I","year":"1964","journal-title":"J Roy Soc Med"},{"key":"e_1_2_1_50_1","doi-asserted-by":"publisher","DOI":"10.1136\/pgmj.55.650.894"},{"key":"e_1_2_1_51_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190204"},{"key":"e_1_2_1_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340419"},{"key":"e_1_2_1_53_1","first-page":"269","article-title":"Bannayan syndrome\u2014generalized lipomatosis associated with megalencephaly and macrodactyly","volume":"36","author":"Okumura K","year":"1986","journal-title":"Acta Pathol Jpn"},{"key":"e_1_2_1_54_1","first-page":"442","article-title":"The incidence of thyroid carcinoma in Hashimoto's thyroiditis","volume":"53","author":"Ott RA","year":"1987","journal-title":"Am Surg"},{"key":"e_1_2_1_55_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410290511"},{"key":"e_1_2_1_56_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000658-194808000-00011"},{"key":"e_1_2_1_57_1","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1542\/peds.26.2.293","article-title":"MacrocephalY, pseudopapilledema and multiple hemangiomata: A previously undescribed heredofamilial syndrome","volume":"26","author":"Riley HD","year":"1960","journal-title":"Pediatrics"},{"key":"e_1_2_1_58_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(196304)16:4<468::AID-CNCR2820160408>3.0.CO;2-F"},{"key":"e_1_2_1_59_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb01785.x"},{"key":"e_1_2_1_60_1","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/S0016-5085(19)33876-4","article-title":"Juvenile polyps with cachexia","volume":"47","author":"Ruymann FB","year":"1969","journal-title":"Gastroenterology"},{"key":"e_1_2_1_61_1","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1016\/S0016-5085(70)80130-5","article-title":"Generalized juvenile gastrointestinal polyposis","volume":"58","author":"Sachatello CR","year":"1970","journal-title":"Gastroenterology"},{"key":"e_1_2_1_62_1","first-page":"107","article-title":"Juvenile gastrointestinal polyposis in a female infant: Report of a case and review of the literature of a recently recognized syndrome","volume":"75","author":"Sachatello CR","year":"1974","journal-title":"Surgery"},{"key":"e_1_2_1_63_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1964.21.5.0409"},{"key":"e_1_2_1_64_1","first-page":"3","article-title":"Are Bannayan syndrome and Ruvalcaba\u2010Myhre\u2010Smith syndrome discrete entities?","volume":"5","author":"Saul RA","year":"1986","journal-title":"Proc Greenwood Genet Ctr"},{"key":"e_1_2_1_65_1","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1542\/peds.69.5.642","article-title":"Mental retardation in the Bannayan syndrome","volume":"69","author":"Saul RA","year":"1982","journal-title":"Pediatrics"},{"key":"e_1_2_1_66_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(86)80102-6"},{"key":"e_1_2_1_67_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.24.3.232"},{"key":"e_1_2_1_68_1","doi-asserted-by":"publisher","DOI":"10.1148\/121.2.441"},{"key":"e_1_2_1_69_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.62.8.811"},{"key":"e_1_2_1_70_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02236018"},{"key":"e_1_2_1_71_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.144.5.983"},{"key":"e_1_2_1_72_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02616919"},{"key":"e_1_2_1_73_1","first-page":"692","article-title":"Fatal juvenile polyposis in infancy","volume":"69","author":"Soper RT","year":"1971","journal-title":"Surgery"},{"key":"e_1_2_1_74_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-83-5-639"},{"key":"e_1_2_1_75_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80634-2"},{"key":"e_1_2_1_76_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1052361"},{"key":"e_1_2_1_77_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.3.1.5"},{"key":"e_1_2_1_78_1","first-page":"915","article-title":"Genetic factors in Hashimoto's struma","volume":"88","author":"Volpe R","year":"1963","journal-title":"Can Med Assoc J."},{"key":"e_1_2_1_79_1","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/S0016-5085(79)80027-X","article-title":"Familial juvenile polyposis of the stomach","volume":"77","author":"Watanabe A","year":"1979","journal-title":"Gastroenterology"},{"key":"e_1_2_1_80_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.s1-14.55.193"},{"key":"e_1_2_1_81_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00390.x"},{"key":"e_1_2_1_82_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(76)80397-6"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320440309","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320440309","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T01:41:46Z","timestamp":1698111706000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320440309"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,10]]},"references-count":81,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1992,10]]}},"alternative-id":["10.1002\/ajmg.1320440309"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320440309","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,10]]}}}