{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T19:12:28Z","timestamp":1759691548160,"version":"build-2065373602"},"reference-count":5,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,12]]},"abstract":"<jats:p>A 5 day old male with bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes is described. There have been two case reports with similar clinical manifestations but associated with interstitial deletion of 14q (q22q23). We propose that either our patient represents a new syndrome or has a microdeletion which could not be detected on routine cytogenetics. High quality cytogenetics and FISH may show microdeletions in patients presenting with this clinical picture and normal chromosomes.<\/jats:p>","DOI":"10.1136\/jmg.31.12.960","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"960-961","source":"Crossref","is-referenced-by-count":13,"title":["Anophthalmia with cleft palate and micrognathia: a new syndrome?"],"prefix":"10.1136","volume":"31","author":[{"given":"S R","family":"Phadke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A K","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S S","family":"Agarwal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,12,1]]},"reference":[{"key":"ref_1","first-page":"960","article-title":"We propose that either our patient represents a new syndrome or has a microdeletion which could not be detected on routine cytogenetics. High quality cytogenetics and FISH may show microdeletions in patients presenting with this clinical picture and normal chromosomes","volume":"31","year":"1994","unstructured":"We propose that either our patient represents a new syndrome or has a microdeletion which could not be detected on routine cytogenetics. High quality cytogenetics and FISH may show microdeletions in patients presenting with this clinical picture and normal chromosomes. (J Med Genet 1994;31:960-961)"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1136\/jmg.28.4.280","article-title":"Deletion 14q (q22q23) associated with anophthalmia, absent pituitary and other abnormalities","volume":"28","author":"Bennett, C.P.; Betts, D.R.; Seller, M.J.","year":"1991","unstructured":"Bennett CP, Betts DR, Seller MJ, Deletion 14q (q22q23) associated with anophthalmia, absent pituitary and other abnormalities. J Med Genet 1991;28:280-1.","journal-title":"J Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1136\/jmg.30.3.251","article-title":"A case of deletion 14q (q22.1q22.3) associated with anophthalmia and pituitary abnormalities","volume":"30","author":"Elliott, J.; Maltby, E.L.; Reynolds, B.","year":"1993","unstructured":"Elliott J, Maltby EL, Reynolds B. A case of deletion 14q (q22.1q22.3) associated with anophthalmia and pituitary abnormalities. J Med Genet 1993;30:251-3.","journal-title":"J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/0002-9394(88)90119-5","article-title":"The Lenz microphthalmia syndrome","volume":"105","author":"Traboulski, E.I.; Lenz, W.; Gonzales-Ramos, M.; Siegel, J.; Macrae, W.G.; Maumenee, L.H.","year":"1988","unstructured":"Traboulski EI, Lenz W, Gonzales-Ramos M, Siegel J, Macrae WG, Maumenee LH. The Lenz microphthalmia syndrome. Am J Ophthalmol 1988;105:40-5.","journal-title":"Am J Ophthalmol"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1111\/j.1399-0004.1982.tb01420.x","article-title":"Lenz microphthalmia: a case report","volume":"22","author":"Baraitser, M.; Winter, R.M.; Taylor, D.S.","year":"1982","unstructured":"Baraitser M, Winter RM, Taylor DS. Lenz microphthalmia: a case report. Clin Genet 1982;22:99-101.","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.31.12.960","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:46:03Z","timestamp":1759689963000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.12.960"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,12]]},"references-count":5,"journal-issue":{"issue":"12","published-online":{"date-parts":[[1994,12,1]]},"published-print":{"date-parts":[[1994,12]]}},"alternative-id":["10.1136\/jmg.31.12.960"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.12.960","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1994,12]]}}}