{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T09:16:23Z","timestamp":1760865383417,"version":"build-2065373602"},"reference-count":10,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,9]]},"abstract":"<jats:p>We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been previously reported in this condition.<\/jats:p>","DOI":"10.1136\/jmg.26.9.586","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"586-589","source":"Crossref","is-referenced-by-count":22,"title":["Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome."],"prefix":"10.1136","volume":"26","author":[{"given":"J","family":"Christodoulou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P N","family":"McDougall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L J","family":"Sheffield","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1989,9,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1001\/archpedi.1970.02100070104016","article-title":"Association of ectrodactyly, ectodermal dysplasia and cleft lip-palate","volume":"120","author":"Rudiger, R.A.; Hoase, W.; Passarge, E.","year":"1970","unstructured":"Rudiger RA, Hoase W, Passarge E. Association of ectrodactyly, ectodermal dysplasia and cleft lip-palate. Am J Dis Child 1970;120:160-3.","journal-title":"Am J Dis Child"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1136\/jmg.13.4.281","article-title":"Ectrodactyly-ectodermaldysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression","volume":"13","author":"Penchaszadeh, V.B.; De Negrotti, T.C.","year":"1976","unstructured":"Penchaszadeh VB, De Negrotti TC. Ectrodactyly-ectodermaldysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression. J Med Genet 1976;13:281-4.","journal-title":"J Med Genet"},{"key":"ref_3","first-page":"130","article-title":"EEC syndrome without ectrodactyly?","volume-title":"Report of 8 cases. Clin Genet 1985","volume":"28","author":"Kuster, W.; Majewski, F.; Meinecke, P.","unstructured":"Kuster W, Majewski F, Meinecke P. EEC syndrome without ectrodactyly? Report of 8 cases. Clin Genet 1985;28:130-5."},{"key":"ref_4","first-page":"69","article-title":"EEC syndrome sine sine","volume":"33","author":"Majewski, F.; Kuster, W.","year":"1988","unstructured":"Majewski F, Kuster W. EEC syndrome sine sine. Clin Genet 1988;33:69-72.","journal-title":"Clin Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1136\/jmg.20.1.52","article-title":"Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome","volume":"20","author":"Ohdo, S.; Hirayama, K.; Terawaki, T.","year":"1983","unstructured":"Ohdo S, Hirayama K, Terawaki T. Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome. J Med Genet 1983;20:52-7.","journal-title":"J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1136\/jmg.25.1.37","article-title":"Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey","volume":"25","author":"Ogur, G.; Yuksel, M.","year":"1988","unstructured":"Ogur G, Yuksel M. Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey. J Med Genet 1988;25:37-40.","journal-title":"J Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1111\/j.1399-0004.1976.tb01547.x","article-title":"Ectodermal dysplasia, mental retardation, cleft lip\/palate and other anomalies in three siblings","volume":"9","author":"Bowen, P.; Armstrong, H.B.","year":"1976","unstructured":"Bowen P, Armstrong HB. Ectodermal dysplasia, mental retardation, cleft lip\/palate and other anomalies in three siblings. Clin Genet 1976;9:35-42.","journal-title":"Clin Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1002\/ajmg.1320270123","article-title":"Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome","volume":"27","author":"Greene, S.L.; Michels, VV, Doyle; J.A.","year":"1987","unstructured":"Greene SL, Michels VV, Doyle JA. Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome. Am J Med Genet 1987;27:207-12.","journal-title":"Am J Med Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1136\/jmg.18.5.394","article-title":"Ectrodactyly, cleft lip and palate in two half sibs","volume":"18","author":"Lewis, M.B.; Pashayan, H.M.","year":"1988","unstructured":"Lewis MB, Pashayan HM. Ectrodactyly, cleft lip and palate in two half sibs. J Med Genet 1988;18:394-6.","journal-title":"J Med Genet"},{"key":"ref_10","first-page":"1191","article-title":"Urinary tract involvement in the EEC syndrome","volume":"139","author":"London, R.; Heredia, R.M.; Israel, J.","year":"1985","unstructured":"London R, Heredia RM, Israel J. Urinary tract involvement in the EEC syndrome. Am J Dis Child 1985;139:1191-3.","journal-title":"Am J Dis Child"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.26.9.586","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:29:37Z","timestamp":1760729377000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.26.9.586"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,9]]},"references-count":10,"journal-issue":{"issue":"9","published-online":{"date-parts":[[1989,9,1]]},"published-print":{"date-parts":[[1989,9]]}},"alternative-id":["10.1136\/jmg.26.9.586"],"URL":"https:\/\/doi.org\/10.1136\/jmg.26.9.586","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1989,9]]}}}