Department of Otolaryngology, University of Cincinnati, Cincinnati, Ohio.
Division of Pediatric Otolaryngology, Department of Otolaryngology, Washington University School of Medicine, St Louis, Missouri.
JAMA Otolaryngol Head Neck Surg. 2017 Feb 1;143(2):168-177. doi: 10.1001/jamaoto.2016.3175.
CHARGE syndrome refers to a syndrome involving coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary disorders, and ear anomalies. However, Verloes revised the characteristics of CHARGE syndrome in 2005 to define this syndrome more broadly. Deficiency of the semicircular canals is now a major criterion for CHARGE syndrome.
To characterize patients with CHARGE syndrome at our center using Verloes' criteria and to reevaluate the nomenclature for this condition.
DESIGN, SETTING, AND PARTICIPANTS: We performed a medical chart review of patients with CHARGE syndrome and reviewed their temporal bone imaging studies at a tertiary care children's hospital affiliated with Washington University in St Louis. Two authors independently reviewed each imaging study (A.W. and K.H.). Radiologic studies, physical findings, genetic tests, and other diagnostic tests were included. Patients with no temporal bone imaging studies were excluded.
Eighteen children were included in this study; 13 children (72%) were male, and the mean (median; range) age of patients at the time of inner ear imaging studies was 2 years (4.5 years; 8 months to 8 years). Coloboma was present in 13 patients (72%) and choanal atresia in 5 (28%); semicircular canal anomalies were present in all patients. Additionally, 13 patients (72%) were diagnosed as having hindbrain anomalies, 17 (94%) as having endocrine disorders, 17 (94%) as having mediastinal organ malformations, and all as having middle or external ear abnormalities and development delay. Cleft lip and cleft palate were found in 6 of 14 patients (43%) who did not have choanal atresia. We tested 16 patients for mutations in the CHD7 gene; 10 were positive (63%) for mutations, 4 (25%) were negative, and 2 (13%) were inconclusive.
Semicircular canal anomalies were the most consistent finding in our patients with CHARGE syndrome. Given the high prevalence of semicircular canal hypoplasia and importance of imaging for diagnosing CHARGE syndrome, we propose changing the term CHARGE syndrome to 3C syndrome to emphasize the importance of the semicircular canals and to recall the 3 major criteria for diagnosis: coloboma, choanal atresia, and semicircular canal anomaly. The nomenclature would also reference the 3 semicircular canals in each ear. This new name for CHARGE syndrome would provide a mnemonic and focus the disease on the most important clinical criteria for diagnosis.
CHARGE 综合征是一种涉及脑裂畸形、心脏缺陷、后鼻孔闭锁、生长发育迟缓、泌尿生殖系统异常和耳部畸形的综合征。然而，Verloes 于 2005 年修订了 CHARGE 综合征的特征，以更广泛地定义该综合征。半规管发育不全现在是 CHARGE 综合征的一个主要标准。
使用 Verloes 的标准对我们中心的 CHARGE 综合征患者进行特征描述，并重新评估该疾病的命名。
设计、地点和参与者：我们对一家与圣路易斯华盛顿大学附属的三级儿童医院的 CHARGE 综合征患者进行了病历回顾，并对他们的颞骨影像学研究进行了回顾。两位作者（A.W. 和 K.H.）独立审查了每一项影像学研究。包括放射学研究、体格检查、基因检测和其他诊断性检查。排除了没有颞骨影像学研究的患者。
本研究纳入了 18 名儿童；13 名儿童（72%）为男性，患者进行内耳影像学研究时的平均（中位数；范围）年龄为 2 岁（4.5 岁；8 个月至 8 岁）。13 名患者（72%）存在脑裂畸形，5 名（28%）存在后鼻孔闭锁；所有患者均存在半规管异常。此外，13 名患者（72%）被诊断为后脑畸形，17 名（94%）为内分泌紊乱，17 名（94%）为纵隔器官畸形，所有患者均有中耳或外耳异常和发育迟缓。14 名患者中有 6 名（43%）未发生后鼻孔闭锁，存在唇裂和腭裂。我们对 16 名患者的 CHD7 基因突变进行了检测；10 名（63%）患者存在基因突变，4 名（25%）患者无基因突变，2 名（13%）患者检测结果不确定。
在我们的 CHARGE 综合征患者中，半规管异常是最常见的发现。鉴于半规管发育不全的高发生率以及影像学对诊断 CHARGE 综合征的重要性，我们建议将 CHARGE 综合征更名为 3C 综合征，以强调半规管的重要性，并提醒诊断的 3 个主要标准：脑裂畸形、后鼻孔闭锁和半规管异常。该命名法还将参考每只耳朵的 3 个半规管。CHARGE 综合征的这个新名称将提供一个记忆辅助，并将疾病重点放在诊断的最重要的临床标准上。
