Turner综合征1例
Chinese Journal of Healthy Birth & Child Care（2011）
Abstract
1 临床资料患儿女,生后30min,系第1胎第1产,胎龄33周,剖宫娩出,试管婴儿,双卵双胎,Apgar 1 min评分9分,5 min 10分,出生体质量1500 g,双胎之大,另一胎为男孩,Apgar评分同前,体质量2300 g.体格检查:发育幼稚,颈部颈璞,乳距增宽明显,双手及双足水肿明显,心肺腹未查及异常,肌张力正常,原始反射引出不全,女性外阴,大阴唇未遮盖小阴唇.腹部B型超声提示:腹腔内可探及子宫,未及卵巢.心脏彩超示:卵圆孔未闭.染色体回报:46XY,Turner综合征,入院后予以保暖,静脉营养等对症支持治疗,生后29 d正常出院.另一胎小男,因查体无特殊貌,家属拒绝行染色体检查,生后一周正常出院.
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