Complex Presentation of Goldenhar Syndrome in a Preterm Neonate: A Case Report.

ABSTRACT

Goldenhar syndrome, also known as oculo-auriculo-vertebral syndrome, is a rare congenital disorder characterized by craniofacial anomalies, ear malformations, and ocular abnormalities. It is also associated with multiple system involvement, including the central nervous system, renal, cardiovascular, and gastrointestinal systems. This case report presents a detailed description of a preterm female neonate diagnosed with Goldenhar syndrome. Many of the classical features, along with ventricular septal defect (VSD), were present in our patient. She was complicated by prematurity and a urinary tract infection and was later diagnosed with a VSD at the age of three months. The multidisciplinary examination and management involving pediatricians, pediatric surgeons, ophthalmologists, and otorhinolaryngologists led to comprehensive care for the patient. This case emphasizes the importance of early diagnosis and management for optimal patient outcomes.