CHARGE syndrome (OMIM 214800) is a condition characterized by multisystem involvement with CHD7 pathogenic mutations leading to disease in the majority of patients. Discovery of the molecular cause of CHARGE unmasked a larger phenotypic spectrum than was previously appreciated. Within our interdisciplinary CHARGE syndrome program, we sought to characterize our CHD7-positive CHARGE cohort without coloboma or choanal atresia, highlighting complications and outcomes. We describe 18 individuals with CHD7-confirmed diagnosis from 15 families. The most sensitive finding in the cohort was temporal bone malformations, present in 13/15 individuals. Individuals had an average of 1.6 major features and 3.3 minor features defined by the Blake et al. guidelines. Despite lack of major features or major malformations, the majority of individuals continued to have difficulties with pneumonia, aspiration, secretion management and motility issues that greatly impacted their lives. Our findings illustrate the need for molecular testing and timely recognition given that the major co-morbidities are frequently experienced by patients with the mildest clinical spectrum of CHARGE syndrome.

CHARGE综合征（OMIM 214800）是一种疾病，其特征在于多系统参与CHD7致病性突变，导致大多数患者患病。CHARGE分子原因的发现揭示了比以前认识到的更大的表型光谱。在我们的跨学科CHARGE综合征计划中，我们试图表征CHD7阳性CHARGE队列的特征，而无大肠癌或胆管闭锁，强调并发症和预后。我们描述了18个人患有CHD7-确认来自15个家庭的诊断。在该队列中最敏感的发现是颞骨畸形，存在于13/15个人中。布莱克等人定义的个人平均有1.6个主要特征和3.3个次要特征。准则。尽管缺乏主要特征或主要畸形，但大多数人仍患有严重影响其生活的肺炎，吸入，分泌管理和运动问题。我们的发现说明，由于主要合并症是CHARGE综合征临床范围最轻的患者经常经历的，因此需要进行分子检测和及时识别。