Goldenhar syndrome in a 5-year-old child

Access through your institution Buy or subscribe After thorough evaluation of the clinical features and congenital anomalies, Goldenhar Syndrome was diagnosed. Known as

oculo-auriculo-vertebral spectrum, it features incomplete development of the ear, nose, soft palate, lip, and mandible, often with eye and spine anomalies. Our patient had a corneal dermoid,

a lipodermoid, and a preauricular appendage. The child underwent surgical removal of the corneal dermoid tumour, and post-operative histopathology confirmed the diagnosis. Goldenhar

syndrome, first reported in 1952 [1], is a rare congenital defect with alterations in the first and second branchial arch structures, manifesting as ocular, ear, facial, and spinal

deformities, and sometimes internal organ abnormalities [2]. The incidence ranges from 1:5600 to 1:45,000 live births, with a male-to-female ratio of 3:2 [3]. The pathogenesis is unclear,

involving genetic or environmental factors, with some studies suggesting autosomal dominant inheritance[1, 4]. This is a preview of subscription content, access via your institution ACCESS

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institutional subscriptions * Read our FAQs * Contact customer support DATA AVAILABILITY All data are included in this published article. REFERENCES * Bogusiak K, Puch A, Arkuszewski P.

Goldenhar syndrome: current perspectives. World J Pediatr. 2017;13:405–15. Article  PubMed  Google Scholar  * Bogusiak K, Arkuszewski P, Skorek-Stachnik K, Kozakiewicz M. Treatment strategy

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[Goldenhar syndrome: A case report]. J Fr Ophtalmol. 2020;43:90–2. Article  CAS  PubMed  Google Scholar  * Kadakia N, Waghmare M, Gotmare S, Manoj R. Goldenhar syndrome in a young girl. J

Coll Physicians Surg Pak. 2019;29:1108–10. Article  PubMed  Google Scholar  Download references AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Department of Ophthalmology, Jinshan Hospital of

Fudan University, Shanghai, China Rongbin Liang, Tao Li & Xiaodong Zhou * Department of Ophthalmology, The First Affiliated Hospital of Nanchang University, Nanchang, China Rongbin

Liang * Department of Anatomy & Embryology, Maastricht University, Maastricht, The Netherlands Hui Gao * Department of Ophthalmology, People’s Hospital of Macheng, Macheng, Hubei, China

Lingli Wang Authors * Rongbin Liang View author publications You can also search for this author inPubMed Google Scholar * Tao Li View author publications You can also search for this author

inPubMed Google Scholar * Hui Gao View author publications You can also search for this author inPubMed Google Scholar * Lingli Wang View author publications You can also search for this

author inPubMed Google Scholar * Xiaodong Zhou View author publications You can also search for this author inPubMed Google Scholar CONTRIBUTIONS RBL and LLW collected case data, provided

appropriate treatment, and drafted the manuscript. TL conducted literature review. HG provided conceptual guidance and professional expertise. XDZ supervised the project and revised the

manuscript. CORRESPONDING AUTHORS Correspondence to Lingli Wang or Xiaodong Zhou. ETHICS DECLARATIONS COMPETING INTERESTS The authors declare no competing interests. ADDITIONAL INFORMATION

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THIS ARTICLE CITE THIS ARTICLE Liang, R., Li, T., Gao, H. _et al._ Goldenhar syndrome in a 5-year-old child. _Eye_ 39 (Suppl 1), 141–143 (2025). https://doi.org/10.1038/s41433-024-03305-9

Download citation * Received: 26 June 2024 * Revised: 17 July 2024 * Accepted: 14 August 2024 * Published: 02 September 2024 * Issue Date: February 2025 * DOI:

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