Treacher Collins综合征的精准诊断与治疗(临床篇)

刘爽; 范欣淼; 朱莹莹; 陈晓巍

doi:10.13201/j.issn.1001-1781.2018.16.002

Treacher Collins综合征的精准诊断与治疗(临床篇)

- 中国医学科学院北京协和医学院北京协和医院耳鼻喉科(北京, 100730)
基金项目:
国家自然科学基金委员会面上项目（No：81271053）；中国罕见病项目（No：2016YFC0901501）

详细信息

通讯作者: 陈晓巍,E-mail:chenxw_pumch@163.com

中图分类号: R596.1

收稿日期: 2018-05-07

Precision diagnosis and treatment for Treacher Collins syndrome: clinical perspectives

More Information

Corresponding author: CHEN Xiaowei, E-mail: chenxw_pumch@163.com

Received Date: 07 May 2018

摘要

- Treacher Collins综合征 /
- 诊断 /
- 畸形评分 /
- 治疗
- Treacher Collins syndrome /
- diagnosis /
- scoring system /
- treatment

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参考文献(45)

[1]	王璞,范欣淼,樊悦,等. Treacher Collins综合征的研究进展[J]. 临床耳鼻咽喉头颈外科杂志,2016,30(4):333-338.
[2]	SCULLY C, LANGDON J, EVANS J. Marathon of eponyms:20 Treacher Collins syndrome[J]. Oral Dis, 2011, 17:619-620.
[3]	ET C. Cases with symmetrical congenital notches in the outer part of each lid and defective development of the malar bones[J]. Trans Ophthalmol Soc U K, 1900, 20:190-192.
[4]	FRANCESCHETTI A, KLEIN D. The mandibulofacial dysostosis; a new hereditary syndrome[J]. Acta Ophthalmol (Copenh), 1949, 27:143-224.
[5]	TRAINOR P A, DIXON J, DIXON M J. Treacher Collins syndrome:etiology, pathogenesis and prevention[J]. Eur J Hum Genet, 2009, 17:275-283.
[6]	BOWMAN M, OLDRIDGE M, ARCHER C, et al. Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome[J]. Eur J Hum Genet, 2012, 20:769-777.
[7]	TEBER O A, GILLESSEN-KAESBACH G, FISCHER S, et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation[J]. Eur J Hum Genet, 2004, 12:879-890.
[8]	SPLENDORE A, SILVA E O, ALONSO L G, et al. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes[J]. Hum Mutat, 2000, 16:315-322.
[9]	KATSANIS S H, JABS E W. Treacher Collins Syndrome[M]//ADAM M P, ARDINGER H H, PAGON R A, eds. GeneReviews(R).Seattle:University of Washington,2012:1993-2018.
[10]	DIXON M J, MARRES H A, EDWARDS S J, et al. Treacher Collins syndrome:correlation between clinical and genetic linkage studies[J]. Clin Dysmorphol, 1994, 3:96-103.
[11]	ZERNOTTI M E, SARASTY A B. Active Bone Conduction Prosthesis:Bonebridge(TM)[J]. Int Arch Otorhinolaryngol, 2015, 19:343-348.
[12]	PLOMP R G, BREDERO-BOELHOUWER H H, JOOSTEN K F, et al. Obstructive sleep apnoea in Treacher Collins syndrome:prevalence, severity and cause[J]. Int J Oral Maxillofac Surg, 2012, 41:696-701.
[13]	AKRE H, OVERLAND B, ASTEN P, et al. Obstructive sleep apnea in Treacher Collins syndrome[J]. Eur Arch Otorhinolaryngol, 2012, 269:331-337.
[14]	VINCENT M, GENEVIEVE D, OSTERTAG A, et al. Treacher Collins syndrome:a clinical and molecular study based on a large series of patients[J]. Genet Med, 2016, 18:49-56.
[15]	HAYASHI T, SASAKI S, OYAMA A, et al. New grading system for patients with treacher Collins syndrome[J]. J Craniofac Surg, 2007, 18:113-119.
[16]	VENTO A R, LABRIE R A, MULLIKEN J B. The O.M.E.N.S. classification of hemifacial microsomia[J]. Cleft Palate Craniofac J, 1991, 28:68-76.
[17]	TRAINOR P A, ANDREWS B T. Facial dysostoses:Etiology, pathogenesis and management[J]. Am J Med Genet C Semin Med Genet, 2013, 163C:283-294.
[18]	CHANG C C, STEINBACHER D M. Treacher collins syndrome[J]. Semin Plast Surg, 2012, 26:83-90.
[19]	DAVALLE B, NAGEL E, GONZALEZ S, et al. Ex utero intrapartum treatment of fetal micrognathia[J]. Mil Med, 2014, 179:e705-711.
[20]	ZENK J, FYRMPAS G, ZIMMERMANN T, et al. Tracheostomy in young patients:indications and long-term outcome[J]. Eur Arch Otorhinolaryngol, 2009, 266:705-711.
[21]	ROGERS G F, MURTHY A S, LABRIE R A, et al. The GILLS score:part I. Patient selection for tongue-lip adhesion in Robin sequence[J]. Plast Reconstr Surg, 2011, 128:243-251.
[22]	ASTEN P, SKOGEDAL N, NORDGARDEN H, et al. Orofacial functions and oral health associated with Treacher Collins syndrome[J]. Acta Odontol Scand, 2013, 71:616-625.
[23]	OSTERHUS I N, SKOGEDAL N, AKRE H, et al. Salivary gland pathology as a new finding in Treacher Collins syndrome[J]. Am J Med Genet A, 2012, 158A:1320-1325.
[24]	COBB A R, GREEN B, GILL D, et al. The surgical management of Treacher Collins syndrome[J]. Br J Oral Maxillofac Surg, 2014, 52:581-589.
[25]	FALLON J B, IRVINE D R, SHEPHERD R K. Cochlear implants and brain plasticity[J]. Hear Res, 2008, 238:110-117.
[26]	FAN Y, ZHANG Y, WANG P, et al. The efficacy of unilateral bone-anchored hearing devices in Chinese Mandarin-speaking patients with bilateral aural atresia[J]. JAMA Otolaryngol Head Neck Surg, 2014, 140:357-362.
[27]	MARSELLA P, SCORPECCI A, PACIFICO C, et al. Bone-anchored hearing aid (Baha) in patients with Treacher Collins syndrome:tips and pitfalls[J]. Int J Pediatr Otorhinolaryngol, 2011, 75:1308-1312.
[28]	ROSA F, COUTINHO M B, FERREIRA J P, et al. Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome[J]. Acta Otorrinolaringol Esp, 2016, 67:142-147.
[29]	樊悦,张颖,王珍. 骨锚式助听器术后皮肤并发症的处理及预防[J]. 中华耳鼻咽喉头颈外科杂志, 2013, 48(10):798-801.Č
[30]	LESINSKAS E, STANKEVICIUTE V, PETRULIONIS M. Application of the Vibrant Soundbridge middle-ear implant for aural atresia in patients with Treacher Collins syndrome[J]. J Laryngol Otol, 2012, 126:1216-1223.
[31]	钟子敏,唐世杰,彭立红. 腭成形术的现状与研究进展[J]. 医学综述, 2009, 15(8):1237-1239.
[32]	JAHRSDOERFER R A, JACOBSON J T. Treacher Collins syndrome:otologic and auditory management[J]. J Am Acad Audiol, 1995, 6:93-102.
[33]	BAUER B S. Reconstruction of microtia[J]. Plast Reconstr Surg, 2009, 124(1 Suppl):14e-26e.
[34]	NGUYEN P D, CARO M C, SMITH D M, et al. Long-term orthognathic surgical outcomes in Treacher Collins patients[J]. J Plast Reconstr Aesthet Surg, 2016, 69:402-408.
[35]	JACKSON I T. Reconstruction of the lower eyelid defect in Treacher Collins syndrome[J]. Plast Reconstr Surg, 1981, 67:365-368.
[36]	VERSNEL S L, PLOMP R G, PASSCHIER J, et al. Long-term psychological functioning of adults with severe congenital facial disfigurement[J]. Plast Reconstr Surg, 2012, 129:110-117.
[37]	THOMPSON J T, ANDERSON P J, DAVID D J. Treacher Collins syndrome:protocol management from birth to maturity[J]. J Craniofac Surg, 2009, 20:2028-2035.
[38]	SPELTZ M L, WALLACE E R, COLLETT B R, et al. Intelligence and Academic Achievement of Adolescents with Craniofacial Microsomia[J]. Plast Reconstr Surg, 2017, 140:571-580.
[39]	PEREIRA D C, BUSSAMRA L C, ARAUJO JUNIOR E, et al. Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes[J]. Case Rep Obstet Gynecol, 2013, 2013:203976.
[40]	OCHI H, MATSUBARA K, ITO M, et al. Prenatal sonographic diagnosis of Treacher Collins syndrome[J]. Obstet Gynecol, 1998, 91(5 Pt 2):862.
[41]	TANAKA Y, KANENISHI K, TANAKA H, et al. Antenatal three-dimensional sonographic features of Treacher Collins syndrome[J]. Ultrasound Obstet Gynecol, 2002, 19:414-415.
[42]	KATORZA E, NAHAMA-ALLOUCHE C, CASTAIGNE V, et al. Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI[J]. Pediatr Radiol, 2011, 41:652-657.
[43]	SAKAI D, DIXON J, ACHILLEOS A, et al. Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation[J]. Nat Commun, 2016, 7:10328.
[44]	JONES N C, LYNN M L, GAUDENZ K, et al. Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function[J]. Nat Med, 2008, 14:125-133.
[45]	MIWA T, MINODA R, ISE M, et al. Mouse otocyst transuterine gene transfer restores hearing in mice with connexin 30 deletion-associated hearing loss[J]. Mol Ther, 2013, 21:1142-1150.