{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T08:53:01Z","timestamp":1777884781686,"version":"3.51.4"},"reference-count":9,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2012,1]]},"abstract":"<jats:p>Fryns anophthalmia-plus syndrome is a very rare condition initially described by Fryns and colleagues in 1995 in a pair of siblings of nonconsanguineous parents. Since that time, only a few cases have been reported, most of them in newborns and young children. Clinical presentation is variable and includes anophthalmia\/microphthalmia, cleft lip\/palate, and other facial deformities. Furthermore, skeletal, central nervous system, and endocrine anomalies have been described. We report the case of a male fetus of 18 weeks of gestation with normal karyotype and findings matching Fryns anophthalmia-plus syndrome. Pregnancy was terminated because of sonographically proven facial midline defects and a marked cerebral ventriculomegaly. Macroscopic and histological findings obtained at autopsy showed extreme bilateral microphthalmia, unilateral cleft palate, unilateral nasal deformity, and low-set ears. Skeletal anomalies included 13 pairs of ribs, premature ossification of the calcaneus, and talipes.<\/jats:p>","DOI":"10.2350\/10-07-0880-cr.1","type":"journal-article","created":{"date-parts":[[2011,6,15]],"date-time":"2011-06-15T16:05:55Z","timestamp":1308153955000},"page":"58-61","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Fryns Anophthalmia-Plus Syndrome in an 18-Week-Old Fetus"],"prefix":"10.1177","volume":"15","author":[{"given":"Caren","family":"Jayasinghe","sequence":"first","affiliation":[{"name":"Department of Paidopathology, University of Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrich","family":"Gembruch","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klaus","family":"Kuchelmeister","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, University of Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Friederike","family":"K\u00f6rber","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology, University of Cologne, Cologne, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annette M.","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Department of Paidopathology, University of Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2013,12,1]]},"reference":[{"key":"bibr1-10-07-0880-CR.1","first-page":"145","volume":"16","author":"Akalin I","year":"2005","journal-title":"Genet Couns"},{"key":"bibr2-10-07-0880-CR.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580204"},{"key":"bibr3-10-07-0880-CR.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32715"},{"key":"bibr4-10-07-0880-CR.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31566"},{"key":"bibr5-10-07-0880-CR.1","first-page":"43","volume":"19","author":"Ozalp O","year":"2008","journal-title":"Genet Couns"},{"key":"bibr6-10-07-0880-CR.1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.12.960"},{"key":"bibr7-10-07-0880-CR.1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199507000-00010"},{"key":"bibr8-10-07-0880-CR.1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971128)73:1<36::AID-AJMG8>3.0.CO;2-N"},{"key":"bibr9-10-07-0880-CR.1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200301000-00007"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.2350\/10-07-0880-CR.1","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.2350\/10-07-0880-CR.1","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.2350\/10-07-0880-CR.1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T02:38:04Z","timestamp":1777603084000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.2350\/10-07-0880-CR.1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,1]]}},"alternative-id":["10.2350\/10-07-0880-CR.1"],"URL":"https:\/\/doi.org\/10.2350\/10-07-0880-cr.1","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,1]]}}}