Sacca Rosalba, Zur Karen B, Crowley T Blaine, Zackai Elaine H, Valverde Kathleen D, McDonald-McGinn Donna M
Genetic Counseling Master's Program, Arcadia University, Glenside, PA, USA; 22q and You and Clinical Genetics Centers, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Pediatric Voice Program and The Center for Pediatric Airway Disorders, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Otolaryngology: Head & Neck Surgery, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Int J Pediatr Otorhinolaryngol. 2017 May;96:11-14. doi: 10.1016/j.ijporl.2017.02.012. Epub 2017 Feb 21.
22q11.2 deletion syndrome (22q11.2DS) presents with complex but variable symptoms, including cardiac, immune, palatal, endocrine, cognitive, and psychiatric issues. However, an association of 22q11.2DS with structural airway abnormalities has not been formally described. The aim of this study was to document the frequency of this association.
We retrospectively reviewed medical records of patients with 22q11.2DS evaluated in the 22q and You Center at the Children's Hospital of Philadelphia between 1999 and 2015 referred to otolaryngology for an airway assessment. Type of airway abnormality and presence of comorbidities, such as congenital heart disease, tracheostomy, and association with prenatal symptomatology such as polyhydramnios, were noted.
Of the 104 patients who underwent an otolaryngology procedure (microlaryngoscopy or bronchoscopy), 71% (n = 74) had airway abnormalities. Patients with airway abnormalities ranged in age from 5 months to 37 years, with similar prevalence among males and females. Observed airway abnormalities included tracheomalacia (36%), subglottic stenosis (28%), laryngomalacia (26%), glottic web (21%), and bronchomalacia (16%). Most patients with airway abnormalities (91%) had an associated congenital heart defect, with ventricular septal defect and Tetralogy of Fallot being the most prevalent. Importantly, 30% of patients required a tracheostomy, and overall polyhydramnios was noted in 16% of pregnancies.
Airway abnormalities are a common feature of 22q11.2DS, leading to substantial morbidity, particularly when combined with complex cardiac disease. Polyhydramnios may be an important prenatal clue to both the diagnosis of 22q11.2DS and airway anomalies. Postnatal assessment of airway structure and function among patients with 22q11.2DS is an important component of overall evaluation and will help guide long-term management.
22q11.2缺失综合征（22q11.2DS）表现出复杂但多变的症状，包括心脏、免疫、腭部、内分泌、认知和精神方面的问题。然而，22q11.2DS与气道结构异常之间的关联尚未得到正式描述。本研究的目的是记录这种关联的频率。
我们回顾性分析了1999年至2015年间在费城儿童医院22q与你中心接受评估并因气道评估转诊至耳鼻喉科的22q11.2DS患者的病历。记录气道异常的类型以及合并症的存在情况，如先天性心脏病、气管切开术，以及与产前症状如羊水过多的关联。
在接受耳鼻喉科手术（显微喉镜检查或支气管镜检查）的104例患者中，71%（n = 74）存在气道异常。气道异常患者的年龄范围为5个月至37岁，男女患病率相似。观察到的气道异常包括气管软化（36%）、声门下狭窄（28%）、喉软化（26%）、声门蹼（21%）和支气管软化（16%）。大多数气道异常患者（91%）伴有先天性心脏缺陷，其中室间隔缺损和法洛四联症最为常见。重要的是，30%的患者需要气管切开术，16%的妊娠出现了总体羊水过多的情况。
气道异常是22q11.2DS的常见特征，会导致严重的发病率，尤其是与复杂心脏病合并时。羊水过多可能是22q11.2DS诊断和气道异常的重要产前线索。对22q11.2DS患者进行气道结构和功能的产后评估是整体评估的重要组成部分，将有助于指导长期管理。
