Saini Vasu, Sharma Himani, Cherukuri Anjani Mahesh Kumar, Javvaji Chaitanya Kumar, Bheemavarapu Bhumika
Pediatrics, Shri Guru Ram Rai Institute of Medical and Health Sciences, Dehradun, IND.
Otolaryngology - Head and Neck Surgery, Noida International Institute of Medical Sciences, Greater Noida, IND.
Cureus. 2024 Jul 1;16(7):e63624. doi: 10.7759/cureus.63624. eCollection 2024 Jul.
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.
戈尔登哈综合征,也称为眼耳脊椎综合征,是一种罕见的先天性疾病,其特征为颅面畸形、耳部畸形和眼部异常。它还与多系统受累有关,包括中枢神经系统、肾脏、心血管和胃肠道系统。本病例报告详细描述了一名被诊断为戈尔登哈综合征的早产女婴。我们的患者出现了许多典型特征,以及室间隔缺损(VSD)。她并发早产和尿路感染,三个月大时被诊断出患有室间隔缺损。由儿科医生、小儿外科医生、眼科医生和耳鼻喉科医生进行的多学科检查和管理为患者提供了全面的护理。本病例强调了早期诊断和管理对于实现最佳患者预后的重要性。