{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T13:14:57Z","timestamp":1762866897214,"version":"3.44.0"},"reference-count":9,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2016,6,3]]},"abstract":"<jats:p>Goldenhar syndrome is a rare congenital disease associated with hemifacial hypoplasia as well as ear and ocular defects. Sometimes it is also associated with vertebral and other bone defects, cardiac malformations and central nervous system anomalies. Its aetiology is not yet clarified in the literature. We present a case of multiple malformations detected in the morphology ultrasound (at 22\u2005weeks of gestation), namely absent nasal bones, micrognathia and absent left radius, among other defects. Genetic counselling, fetal brain MRI and cardiac sonography, which showed ventricular septal defect, were performed. 11 syndromes with poor fetal or neonatal prognosis were identified as possible diagnosis, using a genetic database and the couple asked for a medical termination of pregnancy. Postmortem examination has shown features consistent with Goldenhar syndrome.<\/jats:p>","DOI":"10.1136\/bcr-2016-215258","type":"journal-article","created":{"date-parts":[[2016,6,22]],"date-time":"2016-06-22T14:34:29Z","timestamp":1466606069000},"page":"bcr2016215258","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Goldenhar syndrome: a rare diagnosis with possible prenatal findings"],"prefix":"10.1136","volume":"2016","author":[{"given":"B\u00e1rbara","family":"Ribeiro","sequence":"first","affiliation":[{"name":"Gynecology and Obstetrics Department, Hospital de Braga, Braga, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joana","family":"Igreja","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics Department, Hospital de Braga, Braga, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel","family":"Gon\u00e7alves-Rocha","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Hospital de Braga, Braga, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Cadilhe","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics Department, Hospital de Braga, Braga, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2016,6,21]]},"reference":[{"key":"2025082805313280000_2016.jun21_1.bcr2016215258.1","unstructured":"OMIN Database: Hemifacial microsomia. http:\/\/omim.org\/entry\/164210 (accessed 14 Dec 2015)."},{"key":"2025082805313280000_2016.jun21_1.bcr2016215258.2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(63)80233-4"},{"key":"2025082805313280000_2016.jun21_1.bcr2016215258.3","unstructured":"Heike C , Luquetti D , Hing A . Craniofacial microsomia. Seattle: GeneRewies, 1993\u20132015. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK5199\/ (accessed 14 Dec 2015)."},{"key":"2025082805313280000_2016.jun21_1.bcr2016215258.4","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e328323a7dd"},{"key":"2025082805313280000_2016.jun21_1.bcr2016215258.5","unstructured":"Genetics Home Reference: Hemifacial microsomia. http:\/\/ghr.nlm.nih.gov\/condition\/craniofacial-microsomia (accessed 14 Dec 2015)."},{"key":"2025082805313280000_2016.jun21_1.bcr2016215258.6","doi-asserted-by":"publisher","DOI":"10.1590\/S1678-77572010000600019"},{"key":"2025082805313280000_2016.jun21_1.bcr2016215258.7","first-page":"705","article-title":"A propos d'une observation familiale de syndrome de Franceschetti-Goldenhar","volume":"63","author":"Saraux","year":"1963","journal-title":"Bull Soc Ophtal Franc"},{"key":"2025082805313280000_2016.jun21_1.bcr2016215258.8","first-page":"359","article-title":"Clinical manifestations in 17 Greek patients with Goldenhar syndrome","volume":"17","author":"Touliatou","year":"2006","journal-title":"Genet Counsel"},{"key":"2025082805313280000_2016.jun21_1.bcr2016215258.9","doi-asserted-by":"crossref","first-page":"1815","DOI":"10.1002\/ajmg.a.32407","article-title":"Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)","volume":"146A","author":"Digilio","year":"2008","journal-title":"Am J Med Genet"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2016-215258","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:31:39Z","timestamp":1756384299000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2016-215258"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,21]]},"references-count":9,"alternative-id":["10.1136\/bcr-2016-215258"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2016-215258","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2016,6,21]]}}}