Goldenhar syndrome in a 5-year-old child

A 5-year-old boy was admitted to our facility with a visible corneal neoplasm in his left eye, which had been noticed since infancy. Upon examination, on the temporal lower angle of the conjunctiva of the left eye, there was a greyish-white, smooth-surfaced mass approximately 4 mm in diameter that extended about 3 mm into the cornea (Fig. 1A). The upper left eyelid displayed a noticeable 3 mm defect (Fig. 1A). Notably, the child was found to have several distinct physical features including bilateral preauricular appendages, each measuring approximately 0.3 cm in diameter (Fig. 1D, E). In close proximity, a 5 mm by 3 mm subconjunctival lipodermoid was also observed (Fig. 1A). Additionally, the child had a 2 mm cleft lip and a 5 mm gap in his teeth, evident upon oral examination (Fig. 1B, C).

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

A A greyish-white, smooth-surfaced mass approximately 4 mm in diameter located at the inferotemporal quadrant of the left conjunctiva, extending about 3 mm onto the cornea. The upper eyelid shows a noticeable 3 mm defect. B The child has a 2 mm cleft lip. C The child has a 5 mm missing incisor. D Preauricular tag on the right side. E Preauricular tag on the left side.

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].

Clinicians should consider Goldenhar Syndrome when encountering similar symptoms, particularly ocular dermoids. This case highlights the need for thorough differential diagnosis to avoid misdiagnosis. Comprehensive examinations of multiple organ systems are crucial to identify anomalies early. In this case, the absence of cardiac and spinal abnormalities was confirmed. This approach aids in accurate diagnosis and informs a multidisciplinary treatment plan, addressing both symptomatic and asymptomatic aspects of the syndrome for holistic management tailored to the patient’s needs.

Author 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.

Data availability

All data are included in this published article.

Competing interests

The authors declare no competing interests.