Eliason Michael J, Melzer Jonathan M, Gallagher Thomas Q
Department of Otolaryngology, Naval Medical Center, 620 John Paul Jones Circle, Portsmouth, VA 23708, USA.
Ear Nose Throat J. 2017 Aug;96(8):E6-E9. doi: 10.1177/014556131709600802.
Cornelia de Lange Syndrome (CdLS) can be expressed in multiple organ systems requiring a variety of specialists, including pediatric otolaryngology. We present the case of a 20-month-old boy with CdLS actively managed by an aerodigestive team consisting of pediatric otolaryngology, pediatric pulmonology, pediatric gastroenterology, with support staff from audiology, speech, and nutrition. His presentation included mixed hearing loss, dysphagia, microaspiration, gastroesophageal reflux, and failure to thrive. We submit this challenging case of CdLS with a review of the literature to focus specific attention on the otolaryngic manifestations of the syndrome and to discuss the benefits of a multidisciplinary approach to these unique patients.
科妮莉亚·德朗格综合征（CdLS）可在多个器官系统中表现出来，这需要包括小儿耳鼻喉科在内的多种专科医生参与。我们报告了一例20个月大患有CdLS的男孩病例，该病例由一个由小儿耳鼻喉科、小儿肺病科、小儿胃肠病科组成的气道消化道团队积极管理，并得到了听力、言语和营养方面的辅助人员的支持。他的症状包括混合性听力损失、吞咽困难、微误吸、胃食管反流和发育不良。我们提交这个具有挑战性的CdLS病例并回顾文献，以特别关注该综合征的耳鼻喉科表现，并讨论对这些特殊患者采用多学科方法的益处。
