Abstract：
Congenital bilateral vocal fold paralysis (BVFP) is a rare but significant cause of morbidity in pediatric otolaryngology. The differential diagnosis is expansive, with common etiologies including birth trauma, brainstem neoplasms, and neurologic disorders. There are few known genetic causes of the condition. This report details the first known case of BVFP secondary to a genetic deficiency in MYOD1, a master transcriptional regulator of skeletal muscle cell specification. Genetics consultation and testing may be a useful adjunct in the workup of congenital BVFP and may help guide prognostication, additional workup, counseling, and clinical decision-making.
摘要：
先天性双侧声带麻痹（BVFP）是小儿耳鼻喉科罕见但重要的发病原因。鉴别诊断是广泛的，常见的病因包括出生创伤，脑干肿瘤,和神经系统疾病。很少有已知的遗传原因。该报告详细介绍了第一例BVFP继发于MYOD1遗传缺陷的情况，MYOD1是骨骼肌细胞规格的主要转录调节因子。遗传学咨询和测试可能是先天性BVFP检查的有用辅助手段，可能有助于指导预后。额外的工作，咨询,和临床决策。
