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Abstract：
Cornelia de Lange syndrome is a rare genetic condition with developmental disorder and malformation affecting multiple systems. To describe the clinical and laboratory details and outcome of the children diagnosed with Cornelia de Lange syndrome, we retrospectively studied six cases who presented to our hospital between the years 2013 and 2015. Almost all had developmental retardation, with recurrent respiratory tract infections, and feeding difficulties. Synophrys with long curly eyelashes with low anterior and posterior hairline was present in all the children. Cornelia de Lange syndrome is a multisystem developmental disorder requiring interdisciplinary management. Symptomatic treatment generally given as therapy is very difficult. Early diagnosis and prompt management of associated disorder are useful for effective outcome of the disease.
摘要：
CorneliadeLange综合征是一种罕见的遗传病，具有影响多个系统的发育障碍和畸形。描述诊断为CorneliadeLange综合征的儿童的临床和实验室细节以及结果，我们对2013年至2015年期间到我院就诊的6例病例进行了回顾性研究.几乎所有人都有发育迟缓，反复呼吸道感染，和喂养困难。所有儿童中都存在长卷曲睫毛，前后发际线较低的Synoprys。CorneliadeLange综合征是一种多系统发育障碍，需要跨学科管理。通常作为治疗给予对症治疗是非常困难的。相关疾病的早期诊断和及时处理对于疾病的有效结果是有用的。
