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Stickler综合征一例
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- Author:
- No author available
- Journal Title:
- Chinese Journal of Ocular Fundus Diseases
- Issue:
- 6
- DOI:
- 10.3760/cma.j.issn.1005-1015.2018.06.016
- Key Word:
- 遗传性疾病,先天性;近视,退行性/先天性;Stickler综合征/诊断;病例报告
Abstract： 患儿女,7岁.因左眼视力下降6月余2017年10月到我院就诊.患儿足月顺产,父母非近亲结婚,家族中无类似遗传病史.2015年于外院诊断为“双眼先天性白内障”并行双眼白内障超声乳化联合人工晶状体植人手术.全身检查:患儿智力发育正常,颜面部小颌畸形改变,左右基本对称,张口型正常,乳牙裂,牙槽突完整,双侧硬腭部分裂开,软腭至悬雍垂完全裂开,舌体居中、活动自如,开口度及开口型无异常.心、肺、腹部检查未见明显异常,生理反射存在,病理反射未引出.眼部检查:右眼视力0.04,矫正-8.50DS/-2.00 DC×120°＞0.3;左眼视力眼前手动,矫正无提高.
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