Han Xu,Gao Yue,Chen Hongyu,et al.Gastroesophageal reflux as an initial symptom in children with 17p13.3 duplication syndrome:one case report[J].Journal of Clinical Pediatric Surgery,2026,(07):676-678.[doi:10.3760/cma.j.cn101785-202503056]
以胃-食管反流为首发症状的17p13.3重复综合征1例
- Title:
- Gastroesophageal reflux as an initial symptom in children with 17p13.3 duplication syndrome:one case report
- 关键词:
- 17p13.3重复综合征; 胃-食管反流
- 摘要:
- 17p13.3重复综合征是一种罕见且仍未得到广泛认识的综合征,临床表现的异质性主要取决于基因重复片段大小及具体受累基因。浙江大学医学院附属儿童医院收治1例以胃-食管反流为首发症状的Ⅱ类17p13.3重复综合征患儿,最终进展为获得性食管闭锁。此外,其还伴有肌张力减低、运动/发育迟缓以及轻度面部畸形等特征,这进一步丰富了17p13.3重复综合征的临床谱系。
参考文献/References:
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备注/Memo
收稿日期:2026-3-17。
通讯作者:高跃,Email:6517018@zju.edu.cn