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[A case of goldenhar syndrome presenting with entropion]
1Department of Ophthalmology, Affiliated Hospital of Guangdong Medical University, Zhanjiang 524013, China.
Insights
Goldenhar syndrome, a rare condition, was diagnosed in a 6-year-old girl presenting with right lower eyelid entropion and other facial abnormalities. Early diagnosis is crucial for managing this complex congenital disorder.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Goldenhar syndrome, also known as oculoauriculovertebral dysplasia, is a rare congenital disorder.
- It is characterized by craniofacial abnormalities, particularly affecting the eyes, ears, and spine.
- Ocular manifestations like eyelid entropion can be presenting symptoms.
Purpose of the Study:
- To report a case of Goldenhar syndrome in a pediatric patient.
- To highlight the ophthalmological findings associated with the condition.
- To emphasize the importance of comprehensive examination for diagnosing complex syndromes.
Main Methods:
- A detailed clinical examination of a 6-year-old female patient presenting with ocular symptoms.
- Assessment of associated craniofacial and spinal abnormalities.
- Diagnostic confirmation based on clinical presentation.
Main Results:
- The patient exhibited right lower eyelid entropion as the primary ocular sign.
- Accompanying manifestations included right hemifacial microsomia, facial nerve palsy, ear malformation, and cervical spine malformation.
- The constellation of symptoms led to the diagnosis of Goldenhar syndrome.
Conclusions:
- Goldenhar syndrome diagnosis requires a thorough evaluation of multiple congenital anomalies.
- Ophthalmologists play a key role in identifying early signs of such syndromes.
- Comprehensive multidisciplinary care is essential for patients with Goldenhar syndrome.
Abstract:
A 6-year-old female child was admitted to the ophthalmology department due to "increased tearing in the right eye since infancy". The main ocular manifestation of the child was entropion of the right lower eyelid. Through detailed physical examination, the girl was found to have multiple accompanying manifestations, including right hemifacial microsomia, right facial nerve palsy, right ear malformation, and cervical spine malformation. Based on the child's clinical manifestations and examination results, the diagnosis of Goldenhar syndrome was confirmed.
