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Goldenhar syndrome in a 5-year-old child

Eye (2024)Cite this article

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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].

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Fig. 1: Facial anomalies in this case of Goldenhar syndrome.

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All data are included in this published article.

References

  1. Bogusiak K, Puch A, Arkuszewski P. Goldenhar syndrome: current perspectives. World J Pediatr. 2017;13:405–15.

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  2. Bogusiak K, Arkuszewski P, Skorek-Stachnik K, Kozakiewicz M. Treatment strategy in Goldenhar syndrome. J Craniofac Surg. 2014;25:177–83.

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  3. El Bouaychi A, Ez-Zahraoui M, Boutimzine N, Cherkaoui O. Syndrome de Goldenhar: à propos d’un cas [Goldenhar syndrome: A case report]. J Fr Ophtalmol. 2020;43:90–2.

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  4. Kadakia N, Waghmare M, Gotmare S, Manoj R. Goldenhar syndrome in a young girl. J Coll Physicians Surg Pak. 2019;29:1108–10.

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Authors and Affiliations

  1. Department of Ophthalmology, Jinshan Hospital of Fudan University, Shanghai, China

    Rongbin Liang, Tao Li & Xiaodong Zhou

  2. Department of Ophthalmology, The First Affiliated Hospital of Nanchang University, Nanchang, China

    Rongbin Liang

  3. Department of Anatomy & Embryology, Maastricht University, Maastricht, The Netherlands

    Hui Gao

  4. Department of Ophthalmology, People’s Hospital of Macheng, Macheng, Hubei, China

    Lingli Wang

Authors
  1. Rongbin Liang
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  2. Tao Li
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  3. Hui Gao
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  4. Lingli Wang
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  5. Xiaodong Zhou
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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.

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The authors declare no competing interests.

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Liang, R., Li, T., Gao, H. et al. Goldenhar syndrome in a 5-year-old child. Eye (2024). https://doi.org/10.1038/s41433-024-03305-9

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  • DOI: https://doi.org/10.1038/s41433-024-03305-9

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