{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T17:26:11Z","timestamp":1773422771915,"version":"3.50.1"},"reference-count":10,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,1,14]]},"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:p>Haemifacial microsomia is an asymmetrical congenital tissue malformation developed from the first and second branchial arches with or without multi-system involvement. Alternatively recognised as Goldenhar syndrome or oculoauriculovertebral spectrum (OAVS), it is an aetiologically heterogeneous group of disorders showing dominant trends in inheritable form.<\/jats:p>\n               <jats:p>We present a case of a boy in early childhood with concomitant craniofacial features of craniofacial microsomia with Loeys-Dietz syndrome. He had a unilateral hypoplastic face, asymmetrical ear malformations and multiple preauricular tags with epibulbar dermoid (features suggestive of Goldenhar syndrome). On detailed clinical evaluation, he met Beighton\u2019s criteria and was diagnosed with arterial tortuosity. Further molecular testing confirmed the diagnosis of Loeys-Dietz syndrome type II.<\/jats:p>\n               <jats:p>Loeys-Dietz syndrome is characterised by aortic root enlargement or type A dissection with or without other vascular malformations and facial midline defects. Molecular testing is required to establish the diagnosis because of overlapping features with other connective tissue disorders.<\/jats:p>","DOI":"10.1136\/bcr-2023-256740","type":"journal-article","created":{"date-parts":[[2024,3,12]],"date-time":"2024-03-12T13:46:56Z","timestamp":1710251216000},"page":"e256740","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Loeys-Dietz syndrome and Goldenhar syndrome unveiled together"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0934-1621","authenticated-orcid":false,"given":"Henuka","family":"Verma","sequence":"first","affiliation":[{"name":"Pediatrics, All India Institute of Medical Sciences \u2013 Rishikesh, Rishikesh, Uttarakhand, India"},{"name":"Pediatrics, All India Institute of Medical Sciences \u2013 Jodhpur, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8929-5017","authenticated-orcid":false,"given":"Prashant Kumar","family":"Verma","sequence":"additional","affiliation":[{"name":"Pediatrics, All India Institute of Medical Sciences \u2013 Rishikesh, Rishikesh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikhil","family":"Rajvanshi","sequence":"additional","affiliation":[{"name":"Pediatrics, All India Institute of Medical Sciences \u2013 Rishikesh, Rishikesh, Uttarakhand, India"},{"name":"Pediatrics, All India Institute of Medical Sciences \u2013 Jodhpur, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nowneet Kumar","family":"Bhat","sequence":"additional","affiliation":[{"name":"Pediatrics, All India Institute of Medical Sciences \u2013 Rishikesh, Rishikesh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,3,12]]},"reference":[{"key":"2025082703364428000_17.3.e256740.1","doi-asserted-by":"publisher","DOI":"10.1590\/S1678-77572010000600019"},{"key":"2025082703364428000_17.3.e256740.2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa055695"},{"key":"2025082703364428000_17.3.e256740.3","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23407"},{"key":"2025082703364428000_17.3.e256740.4","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1007\/s00431-012-1773-x","article-title":"Educational paper: connective tissue disorders with vascular involvement: from gene to therapy","volume":"172","author":"Van Laer","year":"2013","journal-title":"Eur J Pediatr"},{"key":"2025082703364428000_17.3.e256740.5","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-196511000-00001"},{"key":"2025082703364428000_17.3.e256740.6","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.287"},{"key":"2025082703364428000_17.3.e256740.7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-6343.2007.00391.x"},{"key":"2025082703364428000_17.3.e256740.8","doi-asserted-by":"publisher","DOI":"10.1038\/ng1511"},{"key":"2025082703364428000_17.3.e256740.9","unstructured":"Loeys BL , Dietz HC . Loeys-Dietz syndrome. In: Adam MP , Mirzaa GM , Pagon RA , eds. GeneReviews\u00ae. Seattle (WA): University of Washington, 2008."},{"key":"2025082703364428000_17.3.e256740.10","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.11"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-256740","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T10:36:53Z","timestamp":1756291013000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-256740"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3]]},"references-count":10,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2024,3,12]]},"published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1136\/bcr-2023-256740"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-256740","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3]]}}}