期刊文献+

婴儿期歌舞伎脸谱综合征1例 被引量:6

Kabuki syndrome in an infant
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摘要 歌舞伎脸谱综合征(Kabuki syndrome,KS)为一种染色体异常疾病,近年来报道的病例数呈上升趋势。该病由于婴儿期异常体征细微,在婴儿期确诊的病例极为罕见。首都医科大学附属北京儿童医院近期收治了1例KS婴儿,现探讨其婴儿期临床表现、诊断、治疗方法以及预后,以提高对本病的认识。
出处 《中华实用儿科临床杂志》 CSCD 北大核心 2016年第2期156-157,共2页 Chinese Journal of Applied Clinical Pediatrics
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参考文献5

  • 1杨雪静,曾燕,熊丰.Kabuki综合征一例[J].中华儿科杂志,2010,48(11):868-870. 被引量:5
  • 2徐昭彬,杨一峰.Kabuki综合征[J].国际遗传学杂志,2007,30(6):461-466. 被引量:5
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二级参考文献46

  • 1Niikawa N,Matanura N,Fukushima Y,et al.Kabuki make-up syndrome:a syndrome of mental retardation,unusual facies,large and protruding ears,and postnatal growth deficiency.J Pediatr,1981,99:565-569.
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