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Treacher collins综合征的诊断与治疗 被引量：5

The clinical features and treatment of treacher collins syndrom
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摘要 Treacher Col1ins综合征（Treacher Col1ins Syndrome，TCS），又称为Franceschetti综合征、Franceschetti—Zwahlen—Klein综合征，下颌面骨发育不全症等。其病理基础为颅面部复合裂隙畸形，其特点为颅面骨发育不全（特别是颧骨、下颌骨），双眼外眦下移、巨口、面部瘘管、外耳畸形等，形成特征性的鱼面样面容。在新生儿中发生率约为1／50000，呈常染色体显性遗传，遗传基因具有变化不同的外显率和表达率。
作者 卢建建 滕利
机构地区 中国医学科学院中国协和医科大学整形外科医院颅颌面二科
出处 《中国美容医学》 CAS 2007年第10期1451-1454,共4页 Chinese Journal of Aesthetic Medicine
关键词 COLLINS综合征 常染色体显性遗传 颅面骨发育不全 治疗 诊断 外耳畸形 发育不全症 病理基础
分类号 R782.23 [医药卫生—口腔医学]
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参考文献23

  • 1Dixon,Michael J.Treacher Collins syndrome[J].J Med Gen,1995,32:806-808.
  • 2Thompson A.Notice of several cases of malformation of the external ear,together with experiments on the state of hearing in such persons[J].Monthly J Med Sci,1846,7:420.
  • 3陈昱瑞,穆雄铮.Treacher Collins综合征.见:王炜主编.整形外科学[M].杭州:浙江科学技术出版社,1999,761-763.
  • 4Treacher Collins E.Cases with symmetrical congenital notches in the outer part of each lid and defective development of the malar bones[J].Trans Ophthalmol Soc UK,1900,20:190-200.
  • 5Franceschetti A,Klein D.Mandibulo-facial dysostosis:new hereditary syndrome[J].Acta Ophthalmol,1949,27:143-224.
  • 6Gorlin RJ,Pindborg JJ,Cohen MM Jr.Syndromes of the Head and Neck[M].Newyork:McGraw-Hill,1976:453-457.
  • 7Sulik KK,Johnston MC,Smiley SJ,et al.Mandibulofacial dysostosis (Treacher Collins syndrome):a new proposal for its pathogenesis[J].Am J Med Genet,1987,27:359-372.
  • 8王家锦,穆莹,谢鹏,赵亚妹,韦增余,宋欣,崔可忻,张志祥,米春兰,齐丽.Treacher-Collins氏综合征四代家系患者表型分析[J].中国优生优育（1990-2002上半年）,1994,5(2):87-89. 被引量：3
  • 9Balestrazzi P,Baeteman MA,Mattei MG,et al.Franceschetti syndrome in a child with a de novo balanced translocation(5;1 3)(qll;pll) and significant decrease of hexosaminidase B[J].Hum Genet,1983,64:305-308.
  • 10Dixon MJ,Read AP,Donnai D,et al.The gene for Treacher Collins syndrome maps to the long arm of chromosome 5[J].Am J Hum Genet,1991,49:17-22.

二级参考文献14

  • 1Marszalek B, Wojcicki P, Kobus K, et al. Clinical features, treatment and genetic background of Treacher Collins syndrome. J Appl Genet, 2002,43:223-233.
  • 2Gladwin AJ, Dixon J, Loftus SK, et al. Treacher Collines sydrome may result from insertions, deletions or splicicng murions, which introduce a termination codon into the gene. Hum Mol C, enet , 1996 ,5:1533-1538.
  • 3Posnick JC, Ruiz RL. Treacher Collines sydrome: current evaluation,treatment,and future directions. Cleft Palate Craniofac J,2000, 37:434.
  • 4Fuente del Campo A, Martinez Elizondo M, Melloni Magnelli L, et al.Craniofacial development in rats with early resection of the zygomatic arch. Plast Reconstr Surg , 1995,95:486-495.
  • 5Roddi R, Vaandrager JM, Van der Meulen JC. Treacher Collines syndrome: early surgical treatment of orbitomalar malformations. J Craniofac Surg, 1995,6: 211-217.
  • 6Mommaerts MY, Nadjmi N, Abeloos JV, et al. Six years experience with the zygomatic'' sandwich'' osteotomy for correction of malar deficiency. J Oral Maxillofac Surg, 1999,57:8-13.
  • 7Moore MH, Guzman Stein G, Proudman TW, et al. Mandibular lengthening by distraction for airway obstruction in Treacher Collins syndrome. J Craniofac Surg, 1994,5:22-25.
  • 8Denny AD, Talisman R, Hanson PR, et al. Mandibular distraction osteogenesis in very young patients to correct airway obstruction. Plast Reconstr Surg, 2001, 108: 302-311.
  • 9Monasterio FO, Drucker M, Molina F, et al. Distraction osteogenesis in Pierre Robin sequence and related respiratory problems in children. J Craniofac Surg, 2002, 13: 79-83.
  • 10Perlyn CA, Schmelzer RE, Sutera SP, et al. Effect of distraction osteogenesis of the mandible on upper airway volume and resistance in children with micrognathia. Plast Reconstr Surg, 2002, 109: 1809-1818.

共引文献14

同被引文献30

引证文献5

二级引证文献3

中国美容医学
2007年 第10期

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