Ocular Manifestations of Goldenhars syndrome- A case series

Area of Science:

• Medical Genetics
• Developmental Biology
• Pediatric Medicine

Background:

• Goldenhar syndrome, or facio-auriculo-vertebral dysplasia, is a congenital disorder affecting the first and second branchial arches.
• It presents with a spectrum of craniofacial and vertebral anomalies.
• The condition has a reported prevalence ranging from 1:3500 to 1:7500 live births, with a slight male predisposition.

Purpose of the Study:

• To present a case series of pediatric patients diagnosed with Goldenhar syndrome.
• To highlight the clinical manifestations and diagnostic features observed in the studied cohort.
• To contribute to the understanding of this rare congenital condition in children.

Main Methods:

• Retrospective review of medical records for children diagnosed with Goldenhar syndrome.
• Clinical examination and diagnostic imaging (e.g., X-rays, CT scans) were utilized.
• Data collection focused on craniofacial, auricular, and vertebral anomalies.

Main Results:

• The case series includes multiple children presenting with characteristic features of Goldenhar syndrome.
• Observed anomalies included microtia, hemifacial microsomia, and vertebral defects.
• The prevalence and male predisposition noted in the literature were consistent with the observed cases.

Conclusions:

• Goldenhar syndrome is a complex congenital disorder requiring multidisciplinary management.
• Early diagnosis and intervention are crucial for optimizing outcomes in affected children.
• Further research into the etiology and long-term management of Goldenhar syndrome is warranted.