{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T14:02:08Z","timestamp":1793196128011,"version":"4.5.0"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,2,22]],"date-time":"2024-02-22T00:00:00Z","timestamp":1708560000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,2,22]],"date-time":"2024-02-22T00:00:00Z","timestamp":1708560000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100005046","name":"Natural Science Foundation of Heilongjiang Province of China","doi-asserted-by":"crossref","award":["LH2023H041"],"award-info":[{"award-number":["LH2023H041"]}],"id":[{"id":"10.13039\/501100005046","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Ophthalmol"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>To report a case of a 4-year-old patient with Goldenhar syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>The author presents a rare case report involving a 4-year-old boy with multiple malformations. A comprehensive examination showed that the patient primarily had a limbal dermoid. He also has bilateral microtia and ear canal deformities. The skull CT scan and spine X-ray showed Maxillofacial Abnormalities and scoliosis. Whole Exome Sequencing revealed potential gene variations related to microtia. Although certain circumstances prevented us from initiating follow-up treatment for the patient, we have provided a detailed account of the diagnostic methodologies used for this condition.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Goldenhar syndrome is a congenital condition, predominantly presenting as sporadic cases. Its diagnosis and management typically necessitate the involvement of multiple disciplines, including otolaryngology and craniofacial surgery. The syndrome encompasses a variety of craniofacial features, which can facilitate early diagnosis and guide subsequent therapeutic interventions.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12886-024-03317-9","type":"journal-article","created":{"date-parts":[[2024,2,22]],"date-time":"2024-02-22T03:04:43Z","timestamp":1708571083000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Goldenhar syndrome with limbal neoformation, microtia and skeletal deformities: a case report and literature review"],"prefix":"10.1186","volume":"24","author":[{"given":"Yushan","family":"Fu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haotian","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiajia","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nan","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,2,22]]},"reference":[{"issue":"4","key":"3317_CR1","doi-asserted-by":"publisher","first-page":"ZD17","DOI":"10.7860\/JCDR\/2014\/7926.4260","volume":"8","author":"CS Ashokan","year":"2014","unstructured":"Ashokan CS, Sreenivasan A, Saraswathy GK. Goldenhar syndrome - review with case series. J Clin Diagn Res. 2014;8(4):ZD17\u20139. https:\/\/doi.org\/10.7860\/JCDR\/2014\/7926.4260.","journal-title":"J Clin Diagn Res"},{"issue":"5","key":"3317_CR2","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1007\/s12519-017-0048-z","volume":"13","author":"K Bogusiak","year":"2017","unstructured":"Bogusiak K, Puch A, Arkuszewski P. Goldenhar syndrome: current perspectives. World J Pediatr. 2017;13(5):405\u201315. https:\/\/doi.org\/10.1007\/s12519-017-0048-z.","journal-title":"World J Pediatr"},{"key":"3317_CR3","unstructured":"Philadelphia CHo. Goldenhar syndrome 2022 [Available from: https:\/\/www.chop.edu\/conditions-diseases\/goldenhar-syndrome."},{"issue":"2","key":"3317_CR4","doi-asserted-by":"publisher","first-page":"96","DOI":"10.22336\/rjo.2018.15","volume":"62","author":"S Schmitzer","year":"2018","unstructured":"Schmitzer S, Burcel M, Dascalescu D, Popteanu IC. Goldenhar Syndrome - ophthalmologist\u2019s perspective. Rom J Ophthalmol. 2018;62(2):96\u2013104.","journal-title":"Rom J Ophthalmol"},{"issue":"4","key":"3317_CR5","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1097\/MOO.0000000000000468","volume":"26","author":"A Vong","year":"2018","unstructured":"Vong A, Funamura J. Multidisciplinary management of oculo-auriculo-vertebral spectrum. Curr Opin Otolaryngol Head Neck Surg. 2018;26(4):234\u201341. https:\/\/doi.org\/10.1097\/MOO.0000000000000468.","journal-title":"Curr Opin Otolaryngol Head Neck Surg"},{"issue":"5","key":"3317_CR6","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1136\/jmedgenet-2021-108219","volume":"59","author":"A Tingaud-Sequeira","year":"2022","unstructured":"Tingaud-Sequeira A, Trimouille A, Sagardoy T, et al. Oculo-Auriculo-vertebral spectrum: new genes and literature review on a complex disease. J Med Genet. 2022;59(5):417\u201327. https:\/\/doi.org\/10.1136\/jmedgenet-2021-108219.","journal-title":"J Med Genet"},{"issue":"4","key":"3317_CR7","doi-asserted-by":"publisher","first-page":"298","DOI":"10.30476\/DENTJODS.2019.44905","volume":"20","author":"F Jahanimoghadam","year":"2019","unstructured":"Jahanimoghadam F, Sharifi M. Goldenhar Syndrome in a 6-Year-old patient: a Case Report and Review of Literature. J Dent (Shiraz). 2019;20(4):298\u2013303. https:\/\/doi.org\/10.30476\/DENTJODS.2019.44905.","journal-title":"J Dent (Shiraz)"},{"issue":"4","key":"3317_CR8","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1007\/s00056-018-0141-5","volume":"79","author":"E Hofmann","year":"2018","unstructured":"Hofmann E, Detterbeck A, Chepura T, et al. Oculoauriculovertebral spectrum and maxillary sinus volumes: CT-based comparative evaluation. J Orofac Orthop. 2018;79(4):259\u201366. https:\/\/doi.org\/10.1007\/s00056-018-0141-5.","journal-title":"J Orofac Orthop"},{"issue":"6","key":"3317_CR9","doi-asserted-by":"publisher","first-page":"719","DOI":"10.4103\/idoj.IDOJ_491_18","volume":"10","author":"RK Kushwaha","year":"2019","unstructured":"Kushwaha RK, Singh A, Mohta A, Jain SK. Goldenhar Syndrome: a report of two cases. Indian Dermatol Online J. 2019;10(6):719\u201320. https:\/\/doi.org\/10.4103\/idoj.IDOJ_491_18.","journal-title":"Indian Dermatol Online J"},{"issue":"5","key":"3317_CR10","doi-asserted-by":"publisher","first-page":"802","DOI":"10.1016\/j.jcms.2018.02.005","volume":"46","author":"X Chen","year":"2018","unstructured":"Chen X, Xu F, Liu F, et al. Whole-exome sequencing for monozygotic twins discordant for hemifacial microsomia. J Craniomaxillofac Surg. 2018;46(5):802\u201307. https:\/\/doi.org\/10.1016\/j.jcms.2018.02.005.","journal-title":"J Craniomaxillofac Surg"},{"key":"3317_CR11","doi-asserted-by":"publisher","first-page":"591350","DOI":"10.1155\/2013\/591350","volume":"2013","author":"KN Prasad","year":"2013","unstructured":"Prasad KN, Rajha A, Vegi PK. A case of monozygotic twins: the Value of Discordant Monozygotic Twins in Goldenhar Syndrome-OMIM%164210. Case Rep Pediatr. 2013;2013:591350. https:\/\/doi.org\/10.1155\/2013\/591350.","journal-title":"Case Rep Pediatr"},{"issue":"4","key":"3317_CR12","doi-asserted-by":"publisher","first-page":"755","DOI":"10.1002\/ajmg.1320290404","volume":"29","author":"CA Ryan","year":"1988","unstructured":"Ryan CA, Finer NN, Ives E. Discordance of signs in monozygotic twins concordant for the Goldenhar anomaly. 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In conducting this study, I solemnly affirm that all experimental methods adhered to pertinent regulations and guidelines. Furthermore, I confirm that the experimental protocols received approval from the Institutional Review Board of the Second Affiliated Hospital of Harbin Medical University. For participants below the age of 16, informed consent was duly obtained from their parents and\/or legal guardians. The study strictly adhered to established regulations, ensuring full compliance with ethical review and informed consent requirements.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"In this study, the patient and his mother were provided with comprehensive verbal and written information, including a detailed understanding of the research purpose, methods, risks, and benefits. They were explicitly informed of their right to voluntary participation and the ability to withdraw their consent at any time. They have also been informed that the patient\u2019s information and images will be published online. Both the patient and his mother have consented to participate in the study. Written informed consent was obtained from the patient\u2019s legal guardian for publication of identifying information\/images in an online open-access publication. If necessary, we can provide a copy of the signed consent form.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"81"}}