{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T16:35:23Z","timestamp":1779122123210,"version":"3.51.4"},"reference-count":6,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,1]]},"abstract":"<jats:p>We report a brother and sister affected by a constellation of malformations, including cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). A similar association has been reported previously by Richieri-Costa and Orquizas in a male patient born to consanguineous parents. An autosomal recessive pattern of inheritance is proposed for this syndrome.<\/jats:p>","DOI":"10.1136\/jmg.32.1.72","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"72-74","source":"Crossref","is-referenced-by-count":19,"title":["An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE)."],"prefix":"10.1136","volume":"32","author":[{"given":"A","family":"Giannotti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M C","family":"Digilio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Mingarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,1,1]]},"reference":[{"key":"ref_1","first-page":"787","article-title":"Ectrodactyly, cleft lip\/palate, ventricular septal defect, micropenis and mental retardation in a Brazilian child born to consanguineous parents","volume":"X:","author":"Richieri-Costa, A.; Orquizas, L.C.","year":"1987","unstructured":"Richieri-Costa A, Orquizas LC. Ectrodactyly, cleft lip\/palate, ventricular septal defect, micropenis and mental retardation in a Brazilian child born to consanguineous parents. Rev Bras Genet 1987;X:787-92.","journal-title":"Rev Bras Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/ajmg.1320370112","article-title":"EEC syndrome: report on 20 new patients, clinical and genetic considerations","volume":"37","author":"Rodini, E.S.O.; Richieri-Costa, A.","year":"1990","unstructured":"Rodini ESO, Richieri-Costa A. EEC syndrome: report on 20 new patients, clinical and genetic considerations. Am.7 Med Genet 1990;37:42-53.","journal-title":"Am.7 Med Genet"},{"key":"ref_3","first-page":"539","article-title":"Ectrodactyly, cleft lip\/palate syndrome","volume":"38","author":"Rodini, E.S.O.; Freitas, J.A.S.; Richieri-Costa, A.","year":"1991","unstructured":"Rodini ESO, Freitas JAS, Richieri-Costa A. Ectrodactyly, cleft lip\/palate syndrome. AmJ7Med Genet 1991;38:539-41.","journal-title":"AmJ7Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1002\/ajmg.1320160405","article-title":"A previously undescribed autosomal recessive multiple congenital anomalies\/mental retardation (MCA\/MR) syndrome with growth failure, lip\/palate cleft(s), and urogenital anomalies","volume":"16","author":"Malpuech, G.; Demeocq, F.; Palcoux, J.B.; Valiefering, P.","year":"1983","unstructured":"Malpuech G, Demeocq F, Palcoux JB, Valiefering P. A previously undescribed autosomal recessive multiple congenital anomalies\/mental retardation (MCA\/MR) syndrome with growth failure, lip\/palate cleft(s), and urogenital anomalies. Am JMed Genet 1983;16:475-80.","journal-title":"Am JMed Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1002\/ajmg.1320260111","article-title":"The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect","volume":"26","author":"Greenberg, F.; Gresik, M.V.; Carpenter, R.J.; Law, S.W.; Hoffman, L.P.; Ledbetter, D.H.","year":"1987","unstructured":"Greenberg F, Gresik MV, Carpenter RJ, Law SW, Hoffman LP, Ledbetter DH. The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect. Am _7 Med Genet 1987;26: 59-64.","journal-title":"Am _7 Med Genet"},{"key":"ref_6","first-page":"585","article-title":"Apparently new oculo-cerebro-acral syndrome","volume":"19","author":"Atkin, J.F.; Patil, S.","year":"1984","unstructured":"Atkin JF, Patil S. Apparently new oculo-cerebro-acral syndrome. Anm _Med Genet 1984;19:585-7.","journal-title":"Anm _Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.32.1.72","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:14:56Z","timestamp":1759688096000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.32.1.72"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,1]]},"references-count":6,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1995,1,1]]},"published-print":{"date-parts":[[1995,1]]}},"alternative-id":["10.1136\/jmg.32.1.72"],"URL":"https:\/\/doi.org\/10.1136\/jmg.32.1.72","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,1]]}}}