Department of Otorhinolaryngology, Centre Hospitalier Universitaire Sainte-Justine, Montreal, Quebec, Canada.
University of Cincinnati College of Medicine, Cincinnati, Ohio, U.S.A.
Laryngoscope. 2020 Apr;130(4):E122-E133. doi: 10.1002/lary.28169. Epub 2019 Jul 13.
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder. Our goal was to systematically review the literature regarding otolaryngology manifestations of CdLS.
We systematically reviewed the PubMed, Embase, CINAHL, Scopus, and Google Scholar databases for original articles of otolaryngology manifestations for patients with CdLS. These articles were analyzed, and pooled prevalence was calculated.
We analyzed 1,310 patients included in 35 case series and 34 case reports. Hearing loss was present for many patients (27 studies), with sensorineural hearing loss affecting 40.3% (95% confidence interval [CI]: 17.3-63.4) and conductive affecting 22.7% (95% CI: 5.7-39.7). Recurrent acute otitis media was the most frequent infectious manifestation, with 56.5% (95% CI: 34.1-78.4) in seven studies, followed by recurrent airway infections with 44.1% (95% CI: 11.0-87.1) in five studies. Forty-nine (49.7%) percent of patients (95% CI: 25.9-73.6) in nine studies had dysphagia, and 76.6% (95% CI: 59.8-93.3) in four studies had some degree of dysphonia. Craniofacial anomalies were reported in 30 studies, with micrognathia (53.1%; 95% CI: 34.1-72.1) and high arched palate (70.6%; 95% CI: 56.5-84.8) commonly reported. Additional physical exam abnormalities reported included those involving: lips (76.8%; 95% CI: 65.3-88.4), dentition (65.1%; 95% CI: 27.2-100), mouth (85.5%; 95% CI: 76.2-93.8), and eyelashes (87.1%; 95% CI: 77.2-96.9). Sleep-disordered breathing or obstructive sleep apnea affected 25.8% (95% CI: 11.4-40.2) of patients (7 studies). Airway anomalies were reported in 11 case reports.
This is the first comprehensive evaluation of otolaryngologic manifestations in the CdLS literature. Most reported hearing loss and craniofacial anomalies. Sleep disorders occurred in a minority of patients, whereas airway disorders were primarily reported in case reports. These conditions should be further examined given their potential life-threatening implications.
3a Laryngoscope, 130:E122-E133, 2020.
Cornelia de Lange 综合征（CdLS）是一种罕见的遗传性疾病。我们的目标是系统地回顾有关 CdLS 耳鼻喉科表现的文献。
我们系统地检索了 PubMed、Embase、CINAHL、Scopus 和 Google Scholar 数据库中有关 CdLS 患者耳鼻喉科表现的原始文章。对这些文章进行了分析，并计算了汇总患病率。
我们分析了 35 个病例系列和 34 个病例报告中纳入的 1310 名患者。许多患者存在听力损失（27 项研究），其中感音神经性听力损失影响 40.3%（95%置信区间 [CI]：17.3-63.4），传导性听力损失影响 22.7%（95% CI：5.7-39.7）。复发性急性中耳炎是最常见的感染表现，7 项研究中有 56.5%（95% CI：34.1-78.4），5 项研究中有 44.1%（95% CI：11.0-87.1）为复发性呼吸道感染。9 项研究中有 49（49.7%）%的患者存在吞咽困难，4 项研究中有 76.6%（95% CI：59.8-93.3）的患者存在不同程度的声音障碍。30 项研究中报告了颅面畸形，其中小颌畸形（53.1%；95% CI：34.1-72.1）和高拱形腭（70.6%；95% CI：56.5-84.8）较为常见。此外还报告了其他身体检查异常，包括唇（76.8%；95% CI：65.3-88.4）、牙列（65.1%；95% CI：27.2-100）、口腔（85.5%；95% CI：76.2-93.8）和睫毛（87.1%；95% CI：77.2-96.9）。25.8%（95% CI：11.4-40.2）的患者（7 项研究）存在睡眠呼吸紊乱或阻塞性睡眠呼吸暂停。11 份病例报告中报告了气道异常。
这是首次对 CdLS 文献中耳鼻喉科表现进行的全面评估。大多数报道的听力损失和颅面畸形。睡眠障碍在少数患者中发生，而气道疾病主要在病例报告中报告。鉴于这些疾病可能危及生命，应进一步检查。
3a Laryngoscope, 130:E122-E133, 2020.
