Blake K D, Davenport S L, Hall B D, Hefner M A, Pagon R A, Williams M S, Lin A E, Graham J M
Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.
Clin Pediatr (Phila). 1998 Mar;37(3):159-73. doi: 10.1177/000992289803700302.
CHARGE association is a nonrandom pattern of congenital anomalies that occurs together more frequently than one would expect on the basis of chance. This common multiple anomaly condition has an estimated prevalence of 1:10,000. The number of children diagnosed with CHARGE association is increasing, owing presumably to greater awareness of this condition and advances in the care of complex, chronically ill children, resulting in improved survival and outcome. This review of CHARGE association presents diagnostic criteria that may define a concise, recognizable syndrome with a single pathogenetic basis. This review also summarizes our current understanding of the management for this complex and chronic multiple congenital anomaly condition and discusses the pathogenetic basis for this condition.
CHARGE综合征是一种先天性异常的非随机模式，其共同出现的频率高于基于概率所预期的情况。这种常见的多发畸形病症估计患病率为1:10000。被诊断为CHARGE综合征的儿童数量正在增加，这可能是由于对该病症的认识提高以及对复杂慢性病患儿护理的进步，从而提高了生存率和改善了预后。这篇关于CHARGE综合征的综述提出了可能定义一种具有单一发病机制基础的简明、可识别综合征的诊断标准。这篇综述还总结了我们目前对这种复杂慢性多发先天性畸形病症管理的理解，并讨论了该病症的发病机制基础。
