Treacher Collins综合征一家系
摘要
Treacher Collins综合征(Treacher Collins syndrome,TCS)也称下颌骨颜面发育不全综合征,发病率约为1/500000,是一种常染色体显性遗传性疾病,60%的病例为散发。王家锦等分析了一个TCS的4代家系;王保和等报道2例同胞兄弟同患TCS。2006年郝瑾等分析了一对母子TCS的临床表现。我们对1例TCS先证者进行详细的临床表型分析、系统体格检查、影像学检查和家族史调查,报道如下。
出处
《中华耳鼻咽喉头颈外科杂志》
CAS
CSCD
北大核心
2007年第6期465-466,共2页
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
参考文献12
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二级参考文献33
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10The Treacher Collins Syndrome Collaborative Group. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet, 1996,12: 130-136.
共引文献13
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1刘程辉,唐瞻贵,黄立勋.Treacher Collins综合征1例[J].口腔颌面外科杂志,2005,15(3):319-320. 被引量:2
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3常世民,柳春明.经缝牵引成骨治疗面中部骨骼后缩的研究进展[J].中国美容医学,2008,17(1):142-145.
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4陈刚,胡心宝,姜会庆,洪志坚,江华,林子豪.颞部皮瓣在Treacher-Collin′s综合征的应用[J].中国美容整形外科杂志,2008,19(1):47-49. 被引量:2
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5郭祯,毋磊,刘林嶓.先天性颜面畸形及相关综合征[J].中华医学美学美容杂志,2009,15(5):357-358. 被引量:1
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7姜雅婷,戴丽.多元化护理在Treacher-Collins综合征治疗中的应用[J].中国校医,2014,28(12):946-946. 被引量:1
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9梁琼鹤,管红梅,韩素芳,杨明.婴幼儿Treacher Collins综合征的CT表现[J].中国临床医学影像杂志,2018,29(10):729-733. 被引量:2
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1田蒙,宋歌,胡金天.Treacher collins综合征的基因学研究进展[J].中国美容整形外科杂志,2014,25(9):565-567. 被引量:1
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3尹琳,唐晓军,俞冰,牛峰,归来,张智勇.完全型Treacher Collins综合征的分期手术重建[J].组织工程与重建外科杂志,2010,6(5):269-271.
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7李政康,朱捷,范先群.Treacher Collins综合征眼部畸形的综合整复[J].中国实用眼科杂志,2008,26(1):75-78.
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8鲁大为,石冰,王衡健,郑广宁,王虎,郑谦.综合征与非综合征型腭裂患者颅颌面结构特征的对比研究[J].华西口腔医学杂志,2007,25(1):50-54. 被引量:1
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