{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T18:32:09Z","timestamp":1789583529408,"version":"build-2803163510"},"reference-count":7,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,12,6]],"date-time":"2006-12-06T00:00:00Z","timestamp":1165363200000},"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":[[2007,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a term male infant of healthy non\u2010consanguineous parents, born with congenital malformations, including bilateral cleft palate and lip, mild microphthalmia with iris coloboma and glaucoma of the right eye, and blepharophimosis with severe microphthalmia of the left eye. Spine radiograph and MRI showed first sacral hemivertebra with spina bifida, and agenesis of the 2nd, 3rd, 4th, and 5th sacral vertebrae and coccyx. Spine MRI showed caudal tethering of spinal cord at L<jats:sub>3<\/jats:sub> level, filum terminalis lipoma and a syringomyelia. Brain ultrasound and MRI showed hypoplasia of corpus callosum with mild dilatation of the lateral ventricles. Orbital MRI showed bilateral microphthalmia\u2014distorted small left eyeball with posteriorly located lens, and a split vitreous body in the right eye, suggestive of primary hyperplastic vitreous. The karyotype was normal. Summary of the findings in nine cases (our case and eight published cases) support the notion that anophthalmia\u2010plus syndrome (APS) is a distinct syndrome. Gene locus of APS is yet to be identified. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31566","type":"journal-article","created":{"date-parts":[[2006,12,6]],"date-time":"2006-12-06T19:19:49Z","timestamp":1165432789000},"page":"64-68","source":"Crossref","is-referenced-by-count":17,"title":["Anophthalmia\u2010plus syndrome: A clinical report and review of the literature"],"prefix":"10.1002","volume":"143A","author":[{"given":"Imad R.","family":"Makhoul","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michalle","family":"Soudack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orna","family":"Kochavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph N.","family":"Guilburd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shimon","family":"Maimon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"Gershoni\u2010Baruch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,12,21]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"145","article-title":"A novel Fryns \u2018anophthalmia\u2010plus\u2019 syndrome associated with primary hypothyroidism","volume":"16","author":"Akalin I","year":"2005","journal-title":"Genet Counsel"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10763"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580204"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500108"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199507000-00010"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971128)73:1<36::AID-AJMG8>3.0.CO;2-N"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200301000-00007"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31566","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31566","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T14:50:52Z","timestamp":1699973452000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31566"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,12,21]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,1]]}},"alternative-id":["10.1002\/ajmg.a.31566"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31566","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,12,21]]}}}