{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T13:13:01Z","timestamp":1787317981873,"version":"build-2736575974"},"reference-count":6,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,12]]},"abstract":"<jats:p>A family with the EEC syndrome is reported. Two sibs have the classical form of the condition with ectrodactyly, ectodermal dysplasia, and clefting. Their mother, however, has only minimal evidence, with preaxial polydactyly of the right hand and duplication of the terminal phalanx of the second toe of the left foot with 3\/4 syndactyly. The dilemmas faced by the genetic counsellor are discussed in this variable autosomal dominant condition.<\/jats:p>","DOI":"10.1136\/jmg.27.12.752","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"752-755","source":"Crossref","is-referenced-by-count":22,"title":["Dilemmas in counselling: the EEC syndrome."],"prefix":"10.1136","volume":"27","author":[{"given":"K","family":"Tse","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I K","family":"Temple","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Baraitser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1990,12,1]]},"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.; Haase, W.; Passarge, E.","year":"1970","unstructured":"Rudiger RA, Haase 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","first-page":"43","article-title":"The ectrodactylyectodermal dysplasia-clefting (EEC) syndrome","volume":"3","author":"Bixler, D.; Spivack, J.; Bennett, J.; Christian, J.C.","year":"1971","unstructured":"Bixler D, Spivack J, Bennett J, Christian JC. The ectrodactylyectodermal dysplasia-clefting (EEC) syndrome. Clin Genet 1971;3:43-51.","journal-title":"Clin 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":"840","article-title":"The EEC syndrome","volume":"127","author":"Pries, C.; Mittleman, D.; Miller, M.; Solomon, L.M.; Pashayan, H.M.; Pruzansky, S.","year":"1974","unstructured":"Pries C, Mittleman D, Miller M, Solomon LM, Pashayan HM, Pruzansky S. The EEC syndrome. Am Dis Child 1974;127: 840-4.","journal-title":"Am Dis Child"},{"key":"ref_5","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":"1981","unstructured":"Lewis MB, Pashayan HM. Ectrodactyly, cleft lip and palate in two half sibs. J Med Genet 1981;18:394-6.","journal-title":"J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1136\/jmg.13.4.281","article-title":"Ectrodactyly-ectodermal dysplasia-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-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression. J Med Genet 1976;13:281-4.","journal-title":"J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.27.12.752","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:39:52Z","timestamp":1760722792000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.27.12.752"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,12]]},"references-count":6,"journal-issue":{"issue":"12","published-online":{"date-parts":[[1990,12,1]]},"published-print":{"date-parts":[[1990,12]]}},"alternative-id":["10.1136\/jmg.27.12.752"],"URL":"https:\/\/doi.org\/10.1136\/jmg.27.12.752","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,12]]}}}