{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T12:30:28Z","timestamp":1792672228756,"version":"4.5.0"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2006,12,1]],"date-time":"2006-12-01T00:00:00Z","timestamp":1164931200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2006,12]]},"DOI":"10.1186\/1750-1172-1-50","type":"journal-article","created":{"date-parts":[[2006,12,12]],"date-time":"2006-12-12T19:20:41Z","timestamp":1165951241000},"source":"Crossref","is-referenced-by-count":51,"title":["KBG syndrome"],"prefix":"10.1186","volume":"1","author":[{"given":"Francesco","family":"Brancati","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Sarkozy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2006,12,12]]},"reference":[{"key":"50_CR1","first-page":"7","volume":"11","author":"J Herrmann","year":"1975","unstructured":"Herrmann J, Pallister PD, Tiddy W, Opitz JM: The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig Artic Ser. 1975, 11: 7-18.","journal-title":"Birth Defects Orig Artic Ser"},{"key":"50_CR2","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1002\/ajmg.a.30292","volume":"131","author":"F Brancati","year":"2004","unstructured":"Brancati F, D'Avanzo MG, Digilio MC, Sarkozy A, Biondi M, De Brasi D, Mingarelli R, Dallapiccola B: KBG syndrome in a cohort of Italian patients. Am J Med Genet A. 2004, 131: 144-149. 10.1002\/ajmg.a.30292.","journal-title":"Am J Med Genet A"},{"key":"50_CR3","first-page":"191","volume":"9","author":"K Devriendt","year":"1998","unstructured":"Devriendt K, Holvoet M, Fryns JP: Further delineation of the KBG syndrome. Genet Couns. 1998, 9: 191-194.","journal-title":"Genet Couns"},{"key":"50_CR4","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1046\/j.1365-263x.2001.00231.x","volume":"11","author":"PA Dowling","year":"2001","unstructured":"Dowling PA, Fleming P, Gorlin RJ, King M, Nevin NC, McEntagart M: The KBG syndrome, characteristic dental findings: a case report. Int J Paediatr Dent. 2001, 11: 131-134. 10.1046\/j.1365-263x.2001.00231.x.","journal-title":"Int J Paediatr Dent"},{"key":"50_CR5","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1111\/j.1399-0004.1984.tb00792.x","volume":"26","author":"JP Fryns","year":"1984","unstructured":"Fryns JP, Haspeslagh M: Mental retardation, short stature, minor skeletal anomalies, craniofacial dysmorphism and macrodontia in two sisters and their mother. Another variant example of the KBG syndrome?. Clin Genet. 1984, 26: 69-72.","journal-title":"Clin Genet"},{"key":"50_CR6","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1002\/ajmg.a.30293","volume":"131","author":"GH Maegawa","year":"2004","unstructured":"Maegawa GH, Leite JC, Felix TM, da Silveira HL, da Silveira HE: Clinical variability in KBG syndrome: report of three unrelated families. Am J Med Genet A. 2004, 131: 150-154. 10.1002\/ajmg.a.30293.","journal-title":"Am J Med Genet A"},{"key":"50_CR7","first-page":"33","volume":"11","author":"M Mathieu","year":"2000","unstructured":"Mathieu M, Helou M, Morin G, Dolhem P, Devauchelle B, Piussan C: The KBG syndrome: an additional sporadic case. Genet Couns. 2000, 11: 33-35.","journal-title":"Genet Couns"},{"key":"50_CR8","first-page":"423","volume":"33","author":"A Novembri","year":"1983","unstructured":"Novembri A, Franchini F, Calzolari C, Vieri PL, Giovannucci ML: K.G.B. syndrome: review of the literature and presentation of a case. Arch Putti Chir Organi Mov. 1983, 33: 423-430.","journal-title":"Arch Putti Chir Organi Mov"},{"key":"50_CR9","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1111\/j.1399-0004.1977.tb00939.x","volume":"12","author":"C Parloir","year":"1977","unstructured":"Parloir C, Fryns JP, Deroover J, Lebas E, Goffaux P, van den Berghe H: Short stature, craniofacial dysmorphism and dento-skeletal abnormalities in a large kindred. A variant of K.B.G. syndrome or a new mental retardation syndrome. Clin Genet. 1977, 12: 263-266.","journal-title":"Clin Genet"},{"key":"50_CR10","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1111\/j.1399-0004.1996.tb02647.x","volume":"50","author":"MR Rivera-Vega","year":"1996","unstructured":"Rivera-Vega MR, Leyva Juarez N, Cuevas-Covarrubias SA, Kofman-Alfaro SH: Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome. Clin Genet. 1996, 50: 278-279.","journal-title":"Clin Genet"},{"key":"50_CR11","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1097\/00019605-200009020-00002","volume":"9","author":"SF Smithson","year":"2000","unstructured":"Smithson SF, Thompson EM, McKinnon AG, Smith IS, Winter RM: The KBG syndrome. Clin Dysmorphol. 2000, 9: 87-91.","journal-title":"Clin Dysmorphol"},{"key":"50_CR12","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1111\/j.1399-0004.1994.tb04160.x","volume":"46","author":"D Soekarman","year":"1994","unstructured":"Soekarman D, Volcke P, Fryns JP: The KBG syndrome: follow-up data on three affected brothers. Clin Genet. 1994, 46: 283-286.","journal-title":"Clin Genet"},{"key":"50_CR13","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1002\/ajmg.a.30291","volume":"130","author":"M Tekin","year":"2004","unstructured":"Tekin M, Kavaz A, Berberoglu M, Fitoz S, Ekim M, Ocal G, Akar N: The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype. Am J Med Genet A. 2004, 130: 284-287. 10.1002\/ajmg.a.30291.","journal-title":"Am J Med Genet A"},{"key":"50_CR14","first-page":"437","volume":"33","author":"I Tollaro","year":"1984","unstructured":"Tollaro I, Bassarelli V, Calzolari C, Franchini F, Giovannucci Uzielli ML, Vieri PL: Dento-maxillo-facial anomalies in the KBG syndrome. Minerva Stomatol. 1984, 33: 437-446.","journal-title":"Minerva Stomatol"},{"key":"50_CR15","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1002\/ajmg.1320520310","volume":"52","author":"M Zollino","year":"1994","unstructured":"Zollino M, Battaglia A, D'Avanzo MG, Della Bruna MM, Marini R, Scarano G, Cappa M, Neri G: Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria. Am J Med Genet. 1994, 52: 302-307. 10.1002\/ajmg.1320520310.","journal-title":"Am J Med Genet"},{"key":"50_CR16","volume-title":"Handbook of Orthodontics","author":"RE Moyers","year":"1958","unstructured":"Moyers RE: Handbook of Orthodontics. 1958, Chicago: Year Book Publication, Inc"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1750-1172-1-50.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1750-1172-1-50\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1750-1172-1-50.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,1,23]],"date-time":"2019-01-23T02:18:58Z","timestamp":1548209938000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/1750-1172-1-50"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,12]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,12]]}},"alternative-id":["50"],"URL":"https:\/\/doi.org\/10.1186\/1750-1172-1-50","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,12]]},"article-number":"50"}}