石骨症一例报告

Clinical Misdiagnosis & Mistherapy(2006)

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Abstract
1病例资料 男,4岁.因面色进行性苍白伴活动减少、喜抱1年入院.无发热、尿色改变、出血倾向及其他伴随症状.在多家医院就诊,诊断不清,给予多方治疗无效.家族史:父母健康,否认近亲结婚,否认遗传代谢性疾病家族史;其母受孕时29岁,系第5胎第1产(此前4次妊娠均行人工流产),患儿33周早产,分娩时体重3 000 g,分娩时无产伤及窒息史.
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