{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T15:50:23Z","timestamp":1782489023434,"version":"3.54.5"},"reference-count":6,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,3,25]]},"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:p>Ectrodactyly\u2013ectodermal dysplasia\u2013cleft lip\/palate (EEC) syndrome presents with the triad of claw-like hand\/feet, ectodermal dysplasia and cleft lip\/palate. Presentation with the complete triad is rare. Involvement of intraocular tissues has rarely been reported. Here we report a case of EEC syndrome with complete triad, microphthalmos, rudimentary iris tissue, fundal coloboma and anophthalmos.<\/jats:p>","DOI":"10.1136\/bcr-2025-266684","type":"journal-article","created":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T15:10:15Z","timestamp":1775229015000},"page":"e266684","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Microphthalmos, rudimentary iris tissue, fundal coloboma and anophthalmos in ectrodactyly ectodermal dysplasia cleft lip\/palate syndrome"],"prefix":"10.1136","volume":"19","author":[{"given":"Anmol","family":"Kar","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, All India Institute of Medical Sciences Bhubaneswar, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0887-1690","authenticated-orcid":false,"given":"Bijnya Birajita","family":"Panda","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, All India Institute of Medical Sciences Bhubaneswar, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sucheta","family":"Parija","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, All India Institute of Medical Sciences Bhubaneswar, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruttendu","family":"Moharana","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, All India Institute of Medical Sciences Bhubaneswar, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,4,3]]},"reference":[{"key":"2026062608152228000_19.4.e266684.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2009.09496.x"},{"key":"2026062608152228000_19.4.e266684.2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.9.716"},{"key":"2026062608152228000_19.4.e266684.3","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199604000-00003"},{"key":"2026062608152228000_19.4.e266684.4","doi-asserted-by":"publisher","DOI":"10.1093\/biomet\/28.1-2.60"},{"key":"2026062608152228000_19.4.e266684.5","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.73.4.261"},{"key":"2026062608152228000_19.4.e266684.6","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1046\/j.1365-2133.2002.04638.x","article-title":"EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis","volume":"146","author":"South","year":"2002","journal-title":"Br J Dermatol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-266684","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T15:15:32Z","timestamp":1782486932000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-266684"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4]]},"references-count":6,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2026,4,3]]},"published-print":{"date-parts":[[2026,4]]}},"alternative-id":["10.1136\/bcr-2025-266684"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-266684","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4]]}}}