{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T02:46:50Z","timestamp":1791254810164,"version":"4.1.0"},"reference-count":26,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,5]]},"abstract":"<jats:p>We report on a patient with a constellation of anomalies including hamartomas of the tongue, polysyndactyly, and atrioventricular canal. A similar association has been previously described by Orstavik et al in two sibs. The clinical spectrum of the oralfacial-digital syndrome (OFDS) type II includes all these features. In particular, congenital heart defect, mainly atrioventricular canal, has been described in a few cases. It has been previously suggested that these latter patients may be affected by a variant of OFDS type II. We propose to distinguish this orocardiodigital variant and point out the association of the syndrome with atrioventricular canal.<\/jats:p>","DOI":"10.1136\/jmg.33.5.416","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"416-418","source":"Crossref","is-referenced-by-count":22,"title":["Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal."],"prefix":"10.1136","volume":"33","author":[{"given":"M C","family":"Digilio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Marino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Giannotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1996,5,1]]},"reference":[{"key":"ref_1","article-title":"Based on our results, we propose that OFDS II can be further split to include an orocardiodigital syndrome with hamartoma of the tongue, polysyndactyly of the hands and feet, and CHD, namely AVC. It is well known that AVC occurs as an isolated malformation, but can be associated with non-cardiac anomalies. Although it is occasionally found in children with various aneuploidies and mendelian syndromes, a non-random association of AVC has been noted with specific genetic conditions, including trisomy 21,'4 deletion 8p,'5 3C syndrome,'6 and Noonan syndrome.\"' In addition, AVC is commonly observed in patients with heterotaxia'5 and Ellis-van Creveld syndrome.1920 In particular, children with Ellisvan Creveld syndrome present a type of AVC consisting of a single atrium and partial AVC similar to that reported in the present case and in patients with OFDS II (table 2). Interestingly, AVC is also found in another syndrome with polydactyly of the hands and feet, the Kaufman-McKusick syndrome.2","unstructured":"Based on our results, we propose that OFDS II can be further split to include an orocardiodigital syndrome with hamartoma of the tongue, polysyndactyly of the hands and feet, and CHD, namely AVC. It is well known that AVC occurs as an isolated malformation, but can be associated with non-cardiac anomalies. Although it is occasionally found in children with various aneuploidies and mendelian syndromes, a non-random association of AVC has been noted with specific genetic conditions, including trisomy 21,'4 deletion 8p,'5 3C syndrome,'6 and Noonan syndrome.\"' In addition, AVC is commonly observed in patients with heterotaxia'5 and Ellis-van Creveld syndrome.1920 In particular, children with Ellisvan Creveld syndrome present a type of AVC consisting of a single atrium and partial AVC similar to that reported in the present case and in patients with OFDS II (table 2). Interestingly, AVC is also found in another syndrome with polydactyly of the hands and feet, the Kaufman-McKusick syndrome.2"},{"key":"ref_2","article-title":"In conclusion, although CHD is not common in OFDS, the existence of a subtype with cardiac involvement is emerging from personal observation and previously reported patients. This orocardiodigital syndrome showing a high frequency of AVC suggests a non-random association of this pattern of malformations. In addition, a specific link between AVC and genetic syndromes with polydactyly is suspected","unstructured":"In conclusion, although CHD is not common in OFDS, the existence of a subtype with cardiac involvement is emerging from personal observation and previously reported patients. This orocardiodigital syndrome showing a high frequency of AVC suggests a non-random association of this pattern of malformations. In addition, a specific link between AVC and genetic syndromes with polydactyly is suspected."},{"key":"ref_3","first-page":"95","article-title":"Oral-facial-digital syndromes","volume":"2","author":"Toriello, H.V.","year":"1992","unstructured":"Toriello HV. Oral-facial-digital syndromes, 1992. 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Pediatr 1977;91:683-4.","journal-title":"Pediatr"},{"key":"ref_6","first-page":"415","article-title":"Prenatal diagnosis of Mohr syndrome by ultrasonography","volume":"5","author":"Iaccarino, M.; Lonardo, F.; Giugliano, M.; Della Bruna, M.","year":"1985","unstructured":"Iaccarino M, Lonardo F, Giugliano M, Della Bruna M. Prenatal diagnosis of Mohr syndrome by ultrasonography. Prenat Diagn 1985;5:415-8."},{"key":"ref_7","article-title":"Syndromes of the head and neck","author":"Gorlin, R.J.; MM, Jr, Cohen; Levin, L.S.","year":"1990","unstructured":"Gorlin RJ, Cohen MM Jr, Levin LS. Syndromes of the head and neck. 3rd ed. New York: Oxford University Press, 1990.","edition":"3rd ed"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1111\/j.1399-0004.1992.tb03129.x","article-title":"Congenital heart defects, hamartomas of the tongue and polysyndactyly in a sister and brother","volume":"42","author":"Orstavik, K.H.; Lindemann, R.; Solberg, L.A.; Foerster, A.; Sorland, S.J.","year":"1992","unstructured":"Orstavik KH, Lindemann R, Solberg LA, Foerster A, Sorland SJ. Congenital heart defects, hamartomas of the tongue and polysyndactyly in a sister and brother. 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Am 7 Med Genet 1994;53:196-8.","journal-title":"Am 7 Med Genet"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/0753-3322(93)90056-Q","article-title":"Congenital heart disease in patients with Down's syndrome: anatomic and genetic aspects","volume":"47","author":"Marino, B.","year":"1993","unstructured":"Marino B. Congenital heart disease in patients with Down's syndrome: anatomic and genetic aspects. Biomed Pharmacother 1993;47:197-200.","journal-title":"Biomed Pharmacother"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1002\/ajmg.1320420404","article-title":"Nonrandom association of atrioventricular canal and del(8p) syndrome","volume":"42","author":"Marino, B.; Reale, A.; Giannotti, A.; Digilio, M.C.; Dallapiccola, B.","year":"1992","unstructured":"Marino B, Reale A, Giannotti A, Digilio MC, Dallapiccola B. Nonrandom association of atrioventricular canal and del(8p) syndrome. 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Pediatr Cardiol (in press)"},{"key":"ref_20","first-page":"129","article-title":"Polysplenia: a review of 146 cases. Pediatr Cardiol","volume":"4","author":"Peoples, W.M.; Moller, J.H.; Edwards, J.E.","year":"1983","unstructured":"Peoples WM, Moller JH, Edwards JE. Polysplenia: a review of 146 cases. Pediatr Cardiol 1983;4:129-38."},{"key":"ref_21","first-page":"80","article-title":"Congenital heart disease and chondroectodermal dysplasia. Report of two cases, one in a Negro","volume":"115","author":"Lynch, J.I.; Perry, L.W.; Takakuwa, T.; Scott, L.P.","year":"1968","unstructured":"Lynch JI, Perry LW, Takakuwa T, Scott LP. Congenital heart disease and chondroectodermal dysplasia. Report of two cases, one in a Negro. Am3JDis Child 1968;115:80-7.","journal-title":"Am3JDis Child"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/BF00207395","article-title":"Single atrium, atrioventricular canal\/postaxial hexodactyly indicating Ellis-van Creveld syndrome","volume":"96","author":"Digilio, M.C.; Marino, B.; Giannotti, A.; Dallapiccola, B.","year":"1995","unstructured":"Digilio MC, Marino B, Giannotti A, Dallapiccola B. Single atrium, atrioventricular canal\/postaxial hexodactyly indicating Ellis-van Creveld syndrome. Hum Genet 1995; 96:251-3.","journal-title":"Hum Genet"},{"key":"ref_23","first-page":"813","article-title":"Hydrometrocolpos as a simply inherited malformation","volume":"189","author":"McKusick, V.A.; Baier, R.L.; Knoop, C.E.; Scott, R.B.","year":"1964","unstructured":"McKusick VA, Baier RL, Knoop CE, Scott RB. Hydrometrocolpos as a simply inherited malformation. JAMA 1964;189:813-6.","journal-title":"JAMA"},{"key":"ref_24","first-page":"431","article-title":"The genetics of hand malformations","volume":"3","author":"Temtamy, S.; McKusick, V.A.","year":"1978","unstructured":"Temtamy S, McKusick VA. The genetics of hand malformations. 2nd ed. New York: Alan R Liss for the National Foundation - March of Dimes. Birth Defects 1978; XIV(3):431-7.","edition":"2nd ed","journal-title":"Birth Defects"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1111\/j.1399-0004.1988.tb03426.x","article-title":"Oro-facial-digital syndrome type II","volume":"33","author":"Gillerot, Y.","year":"1988","unstructured":"Gillerot Y. Oro-facial-digital syndrome type II. Clin Genet 1988;33: 140-3.","journal-title":"Clin Genet"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1002\/ajmg.1320320202","article-title":"Orofaciodigital syndrome type IV: report of a patient","volume":"32","author":"Nevin, N.C.; Thomas, P.S.","year":"1989","unstructured":"Nevin NC, Thomas PS. Orofaciodigital syndrome type IV: report of a patient. 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