Mutanabbi M, Rahman M A, Mamun A A, Helal M A, Billah M B, Islam K A
Dr Mahbub Mutanabbi, Associate Professor, Department of Pediatrics, Bangabandhu Sheikh Mujib Medical University (BSMMU), Shahbagh, Dhaka, Bangladesh.
Mymensingh Med J. 2014 Jul;23(3):586-9.
Goldenhar syndrome is a developmental abnormality of 1st & 2nd branchial arch involving the craniofacial microsomia with ocular & vertebral abnormality. Though most of the cases are sporadic, some familial association is also found in autosomal dominant or recessive manner. Teratogenic effect of some toxic substances may lead to the condition. Ocular abnormalities are epibulbar dermoid, lipodermoid & coloboma. Otic defects are preauricular tags, microtia, anotia & conductive hearing loss. Cardio-pulmonary & genitourinary abnormalities are common associations. Here we have described the case of a 10 years old girl had ocular, auricular & vertebral changes consistent with Goldenhar syndrome, she was managed with multidisciplinary approach and she was symptomatically improved but corrective surgery was planned as schedule of respective department.
戈尔登哈综合征是第一和第二鳃弓的发育异常,涉及颅面短小并伴有眼部和脊椎异常。虽然大多数病例为散发性,但也发现有一些以常染色体显性或隐性方式存在的家族关联。某些有毒物质的致畸作用可能导致该病。眼部异常包括眼球表面皮样瘤、脂质皮样瘤和缺损。耳部缺陷有耳前赘生物、小耳畸形、无耳畸形和传导性听力损失。心肺及泌尿生殖系统异常是常见的伴随情况。在此我们描述了一名10岁女孩的病例,她有与戈尔登哈综合征相符的眼部、耳部和脊椎改变,采用多学科方法进行治疗,症状有所改善,但根据各科室安排计划进行矫正手术。