Abstract
目的 分析Cohen综合征的临床过程并复习文献,探索其治疗方法。 方法 对1例Cohen综合征患儿的临床表现、基因报告、康复治疗进行分析,并复习国内外文献。 结果 患儿以运动功能发育落后2年为主诉入院。本病例的临床表现、基因检测报告均符合Cohen综合征的诊断,在规范康复治疗1年后,其运动发育落后的体征得到改善。 结论 Cohen综合征是一种罕见的遗传性疾病,根据临床表现、基因检测可早期诊断本病。早期进行规范康复治疗,可有效改善其运动发育落后问题。长期随访对减少并发症、提高患者生活质量有重要的临床意义。
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