{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:01:45Z","timestamp":1761102105492},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,4,9]],"date-time":"2014-04-09T00:00:00Z","timestamp":1397001600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:sec><jats:label \/><jats:p>The combination of lagophthalmia, euryblepharon, ectropion of lower eyelids, distichiasis, bilateral cleft lip and palate, and oligodontia comprises the blepharo\u2010cheilo\u2010dontic (BCD) syndrome. This combination has been found sporadically or with positive family history and inherited as an autosomal dominant condition with variable expression.<\/jats:p><jats:p>We described a Saudi boy with the cardinal signs consistent with the BCD syndrome. In addition to the common components of BCD syndrome that involve eyelids, lip, and teeth abnormalities, this patient is the third reported BCD case with imperforate anus, the second with thyroid agenesis, and the first with lumbosacral meningomyelocele. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36465","type":"journal-article","created":{"date-parts":[[2014,4,9]],"date-time":"2014-04-09T20:58:39Z","timestamp":1397077119000},"page":"1525-1529","source":"Crossref","is-referenced-by-count":15,"title":["Blepharo\u2010cheilo\u2010dontic (BCD) syndrome: Expanding the phenotype, case report and review of literature"],"prefix":"10.1002","volume":"164","author":[{"given":"Farouq K.","family":"Ababneh","sequence":"first","affiliation":[{"name":"Division of Genetics, Department of Pediatrics King Abdul Aziz Medical City for National Guard Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdulrahman","family":"Al\u2010Swaid","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics King Abdul Aziz Medical City for National Guard Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmed","family":"Elhag","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Department of Pediatrics King Abdul Aziz Medical City for National Guard Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Talaat","family":"Youssef","sequence":"additional","affiliation":[{"name":"Department of Radiology Great Ormond Street Hospital London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saif","family":"Alsaif","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Department of Pediatrics King Abdul Aziz Medical City for National Guard Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,4,9]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"201","article-title":"Multidisciplinary management of blepharo\u2010cheilo\u2010dontic syndrome and the role of overdenture in dental management","volume":"10","author":"Adeboye SO","year":"2009","journal-title":"Eur J Paediatr Dent"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb02288.x"},{"key":"e_1_2_5_4_1","first-page":"17","article-title":"Zur Kenntnis der Anomalien der Lidspaltenform","volume":"50","author":"Elschnig A","year":"1912","journal-title":"Klin Monatsbl Augenheilkd"},{"key":"e_1_2_5_5_1","first-page":"208","article-title":"Congenital euryblepharon with ectropion and dental anomaly: An autosomal dominant clefting disorder with marked variability of expression","volume":"8","author":"Falace PB","year":"1989","journal-title":"Proc Greenwood Genet Center"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961016)65:2<109::AID-AJMG5>3.0.CO;2-N"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980305)76:2<133::AID-AJMG5>3.0.CO;2-U"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590221"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1597\/04-200.1"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20223"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270104"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30285"},{"key":"e_1_2_5_13_1","first-page":"170","article-title":"Augenarztliche Befunde bei fruhkindlicher Entwicklungsstorung","volume":"105","author":"Piper HF","year":"1957","journal-title":"Mschr. 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