{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:36:14Z","timestamp":1787016974976,"version":"build-2736575974"},"reference-count":7,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1983,2]]},"abstract":"<jats:p>We report five patients with ectodermal dysplasia, ectrodactyly associated with syndactyly or cleft hand or both, and, in addition, macular dystrophy which was presumed to be progressive, in an isolated population on a remote island in Japan. The heredity of this syndrome was thought to be autosomal recessive. Three cases have been reported so far with a combination of the same abnormalities. The parents in these cases were consanguineous.<\/jats:p>","DOI":"10.1136\/jmg.20.1.52","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"52-57","source":"Crossref","is-referenced-by-count":25,"title":["Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome."],"prefix":"10.1136","volume":"20","author":[{"given":"S","family":"Ohdo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Hirayama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Terawaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1983,2,1]]},"reference":[{"key":"ref_1","first-page":"96","article-title":"and retinal degeneration in two siblings","volume":"1","author":"Albrectsen, B.; Hypotrichosis, Svendsen I.B.; syndactyly","year":"1956","unstructured":"Albrectsen B, Svendsen IB. Hypotrichosis, syndactyly, and retinal degeneration in two siblings. Acta Derm Venereol 1956;1:96-101.","journal-title":"Acta Derm Venereol"},{"key":"ref_2","first-page":"433","article-title":"A case of central and pericentral retinopathia pigmentosa with abnormalities of hair, hands and teeth","volume":"21","author":"Hayakawa, M.; Kato, K.; Yamauchi, Y.","year":"1979","unstructured":"Hayakawa M, Kato K, Yamauchi Y. A case of central and pericentral retinopathia pigmentosa with abnormalities of hair, hands and teeth. Ganka 1979;21:433-8.","journal-title":"Ganka"},{"key":"ref_3","first-page":"252","article-title":"A child with double cleft of lip and palate, protrusion of the intermaxillary portion of the upper jaw and imperfect development of the bones of the four extremities","volume":"70","author":"Roberts, J.B.","year":"1919","unstructured":"Roberts JB. A child with double cleft of lip and palate, protrusion of the intermaxillary portion of the upper jaw and imperfect development of the bones of the four extremities. Ann Surg 1919;70:252-3."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1001\/archpedi.1970.02100070104016","article-title":"Association of Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy ectrodactyly, ectodermal dysplasia, and cleft lip-palate. The EEC syndrome","volume":"120","author":"Rudiger, R.A.; Haase, W.; Passarge, E.","year":"1970","unstructured":"Rudiger RA, Haase W, Passarge E. Association of Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy ectrodactyly, ectodermal dysplasia, and cleft lip-palate. The EEC syndrome. AmJ Dis Child 1970; 120:160-3.","journal-title":"AmJ Dis Child"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1542\/peds.30.5.797","article-title":"Familial ectodermal dysplasia with sensori-neural deafness and other anomalies","volume":"30","year":"1962","unstructured":"Robinson GC, Miller JR, Bensimon JR. Familial ectodermal dysplasia with sensori-neural deafness and other anomalies. Pediatrics 1962;30:797-802.","journal-title":"Pediatrics"},{"key":"ref_6","first-page":"370","article-title":"A newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities","volume":"22","author":"Freire-Maia, N.","year":"1970","unstructured":"Freire-Maia N. A newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities. Am J Hum Genet 1970;22: 370-7.","journal-title":"Am J Hum 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 sibs","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 sibs. Clin Genet 1976;9:35-42.","journal-title":"Clin Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.20.1.52","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:22:23Z","timestamp":1760721743000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.20.1.52"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,2]]},"references-count":7,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1983,2,1]]},"published-print":{"date-parts":[[1983,2]]}},"alternative-id":["10.1136\/jmg.20.1.52"],"URL":"https:\/\/doi.org\/10.1136\/jmg.20.1.52","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,2]]}}}