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Goldenhar's syndrome: case report.
1Department of Surgery, Faculty of Clinical Sciences, Obafemi Awolowo University, Ile-Ife, Nigeria.
East African Medical Journal
|March 11, 2003
Summary
This case report details Goldenhar Syndrome in a Nigerian neonate, presenting unique ocular and facial anomalies. The presumed cause was maternal ingestion of traditional medicine during pregnancy.
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, vertebral defects, and ocular anomalies.
Observation:
- A case of Goldenhar Syndrome in a 3-day-old Nigerian neonate is presented.
- The neonate exhibited right anophthalmos with lipodermoid, left limbal dermoid, bilateral preauricular appendages, and mandibular hypoplasia.
- The lipodermoid was noted to be attached to the tarsal conjunctiva of the lower eyelid on the anophthalmic side.
Findings:
- This specific constellation of symptoms, including the attachment of the lipodermoid, appears to be a previously unreported presentation of Goldenhar Syndrome.
- The presumed etiology involved maternal ingestion of traditional medicine during the first trimester of pregnancy.
Implications:
- This case highlights the diverse phenotypic variability of Goldenhar Syndrome.
- It underscores the potential teratogenic effects of maternal drug consumption, including traditional medicines, during gestation.
- Further research into the genetic and environmental factors contributing to Goldenhar Syndrome is warranted.