Poulin Marc-Antoine, Laframboise Rachel, Blouin Marie-Julie
Faculty of Medecine, Laval University, 1050 Avenue de la Médecine, Quebec City, QC, G1V 0A6, Canada.
Division of Medical Genetics, Centre Hospitalier Universitaire de Quebec, Quebec City, QC, Canada.
Int J Pediatr Otorhinolaryngol. 2019 Jul;122:138-140. doi: 10.1016/j.ijporl.2019.04.019. Epub 2019 Apr 17.
Bardet-Biedl syndrome (BBS) is a rare autosomal-recessive disease characterized by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment, hypogonadism and renal abnormalities. Bifid epiglottis and anterior laryngeal web are rare congenital anomalies and are often constituent of polymalformation syndromes. We report a case of a 9-month-old patient initially referred in otolaryngology (ENT) for dysphonia and recurrent respiratory infections. Physical exam and fiberoptic nasopharyngolaryngoscopy showed bifid epiglottis and laryngeal web associated with BBS. Those laryngeals anomalies may be underdiagnosed in BBS and this case supports the importance of upper airway evaluation by an ENT team, especially with respiratory symptoms or dysphagia.
巴德-比德尔综合征（BBS）是一种罕见的常染色体隐性疾病，其特征为视锥视杆营养不良、肥胖、轴后多指畸形、认知障碍、性腺功能减退和肾脏异常。会厌裂和喉前蹼是罕见的先天性异常，常为多发畸形综合征的组成部分。我们报告一例9个月大的患者，最初因声音嘶哑和反复呼吸道感染转诊至耳鼻喉科（ENT）。体格检查和纤维鼻咽喉镜检查显示会厌裂和喉蹼与BBS相关。这些喉部异常在BBS中可能未得到充分诊断，该病例支持了耳鼻喉科团队对上呼吸道进行评估的重要性，尤其是在出现呼吸道症状或吞咽困难时。
