PDF(Pubmed)
Abstract：
Goldenhar syndrome is a multifactorial congenital anomaly that involves structures that develop from the first and second pharyngeal arches. In this report, we present a clinical case of a 3-month-old male infant diagnosed with Goldenhar syndrome, born to a known retro-viral infected mother who was receiving antiretroviral therapy. The baby was brought to the hospital with complaints related to upper respiratory system. On examination, he had typical signs and symptoms of Goldenhar syndrome: an asymmetrical face with small left facial bones, a low-set ear, left anophthalmia, an atretic left ear with only small ear appendages, and a complete cleft lip and palate. His family had no history of birth defects or exposure to the known causes of birth defects. The baby was treated for severe community-acquired pneumonia, the diagnosis for his current presentation to our hospital, and he is now on multidisciplinary follow-up for possible medical and surgical management of the Goldenhar syndrome.
摘要：
Goldenhar综合征是一种多因素的先天性异常，涉及从第一和第二咽弓发展而来的结构。在这份报告中,我们介绍了一个3个月大的男性婴儿诊断为Goldenhar综合征的临床病例，出生于一位已知的逆转录病毒感染的母亲，她正在接受抗逆转录病毒治疗。婴儿被带到医院，投诉与上呼吸道系统有关。在检查中，他有Goldenhar综合征的典型体征和症状：面部不对称，左侧面部骨骼较小，低矮的耳朵，左侧无眼炎,只有小耳附件的阁楼左耳，唇腭裂.他的家人没有出生缺陷史或暴露于已知的出生缺陷原因。婴儿因严重的社区获得性肺炎接受治疗,他目前在我们医院就诊的诊断，他现在正在接受多学科随访，以治疗Goldenhar综合征。
