特雷彻·柯林斯综合征。
Treacher collins syndrome.
机构信息
Section of Plastic Surgery, Yale University School of Medicine, New Haven, Connecticut.
出版信息
Semin Plast Surg. 2012 May;26(2):83-90. doi: 10.1055/s-0032-1320066.
Abstract
Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated developmental delay or neurologic disease. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Here the authors review the features, genetics, and treatment of Treacher Collins syndrome.
摘要
特雷彻·柯林斯综合征是一种遗传性疾病，导致先天性颅面畸形。患者通常表现为下斜的睑裂、下眼睑缺损、小耳和颧骨及下颌骨发育不良。这种常染色体显性遗传病的表型表达程度不同，患者无相关的发育迟缓或神经疾病。这些患者的护理需要从出生到成年的多学科团队。适当的规划、咨询和手术技术对于优化患者的治疗效果至关重要。本文作者回顾了特雷彻·柯林斯综合征的特征、遗传学和治疗方法。
相似文献
1
Treacher collins syndrome.特雷彻·柯林斯综合征。
Semin Plast Surg. 2012 May;26(2):83-90. doi: 10.1055/s-0032-1320066.
3
Treacher Collins Syndrome.特雷彻·柯林斯综合征
Clin Plast Surg. 2019 Apr;46(2):197-205. doi: 10.1016/j.cps.2018.11.005. Epub 2019 Jan 30.
4
Treacher-collins syndrome and associated abnormalities. A case report.特雷彻-柯林斯综合征及相关异常。病例报告。
Neuroradiol J. 2007 Jun 30;20(3):365-72. doi: 10.1177/197140090702000321.
5
[The research progress of Treacher Collins syndrome].[特雷彻·柯林斯综合征的研究进展]
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2016 Feb;30(4):333-8.
6
Airway management in a patient with Treacher Collins syndrome: A case report.特雷彻·柯林斯综合征患者的气道管理：一例报告。
Korean J Anesthesiol. 2009 Nov;57(5):637-640. doi: 10.4097/kjae.2009.57.5.637.
7
Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype.胎儿下颌面骨发育不全（特雷彻-柯林斯综合征）：分子确诊病例中与鸡胸的新关联及胎儿表型综述
Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):774-80. doi: 10.1002/bdra.23202. Epub 2013 Nov 29.
8
Orofacial features of Treacher Collins syndrome.特雷彻·柯林斯综合征的口面部特征。
Med Oral Patol Oral Cir Bucal. 2009 Jul 1;14(7):E344-8.
9
Treacher Collins Syndrome with choanal atresia: a case report and review of disease features.伴有后鼻孔闭锁的特雷彻·柯林斯综合征：一例报告及疾病特征综述
Braz J Otorhinolaryngol. 2005 Jan-Feb;71(1):107-10. doi: 10.1016/s1808-8694(15)31296-9. Epub 2006 Jan 2.
10
Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes.Treacher Collins 综合征：一种新型 TCOF1 突变和单杆镫骨。
Clin Otolaryngol. 2020 Sep;45(5):695-702. doi: 10.1111/coa.13560. Epub 2020 May 25.
引用本文的文献
1
Reconstruction of Zygoma in Total Agenesis in Treacher-Collins Syndrome Using Kerfed Rib Grafts - A Retrospective Study.使用带锯痕肋骨移植重建特雷彻-柯林斯综合征全发育不全的颧骨——一项回顾性研究
Ann Maxillofac Surg. 2025 Jan-Jun;15(1):72-77. doi: 10.4103/ams.ams_28_25. Epub 2025 Jul 9.
2
Treacher Collins syndrome: A comprehensive review on clinical features, diagnosis, and management.特雷彻·柯林斯综合征：关于临床特征、诊断及治疗的全面综述
J Family Med Prim Care. 2024 Oct;13(10):4165-4172. doi: 10.4103/jfmpc.jfmpc_851_24. Epub 2024 Oct 18.
3
The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP).主要与特雷彻·柯林斯综合征（TCOF1）相关的基因转录受 G-四链体和细胞核酸结合蛋白（CNBP）调控。
Sci Rep. 2024 Mar 29;14(1):7472. doi: 10.1038/s41598-024-58255-9.
4
Reproducibility of human landmark identification in morphological mandible prototypes: major parameters for a 3D CBCT approach.形态学下颌骨原型中人体标志点识别的可重复性：三维锥形束计算机断层扫描方法的主要参数
Forensic Sci Res. 2023 Sep 13;8(3):211-218. doi: 10.1093/fsr/owad029. eCollection 2023 Sep.
5
Case Report: Dental Findings Can Aid in Early Diagnosis of APECED Syndrome.病例报告：牙科检查结果有助于原发性慢性皮肤黏膜念珠菌病综合征的早期诊断。
Front Dent Med. 2021;2. doi: 10.3389/fdmed.2021.670624. Epub 2021 May 12.
6
[ Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery].[特雷彻·柯林斯综合征的基因变异及骨桥手术后言语康复评估]
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2023 Sep;37(9):748-754. doi: 10.13201/j.issn.2096-7993.2023.09.011.
7
Multidisciplinary approach to inherited causes of dual sensory impairment.多学科方法治疗双感官障碍的遗传病因。
Graefes Arch Clin Exp Ophthalmol. 2024 Mar;262(3):701-715. doi: 10.1007/s00417-023-06153-7. Epub 2023 Jun 21.
8
Congenital Mandibular Hypoplasia: Patient-Specific Total Joint Replacement as a Line Extension in the Treatment of Complex Craniofacial Anomalies.先天性下颌骨发育不全：定制型全关节置换术作为复杂颅面畸形治疗中的产品线延伸
J Maxillofac Oral Surg. 2023 Jun;22(2):410-418. doi: 10.1007/s12663-022-01780-9. Epub 2022 Sep 3.
9
Treacher Collins syndrome: A case report and review of literature.特雷彻·柯林斯综合征：一例病例报告及文献综述
Clin Case Rep. 2022 Dec 27;10(12):e6782. doi: 10.1002/ccr3.6782. eCollection 2022 Dec.
10
Berry-Treacher Collins Syndrome With Congenital Bell's Palsy and Unilateral Anotia: Tongue-Tie Release Under General Anesthesia.伴有先天性贝尔面瘫和单侧耳郭缺失的贝里-特雷彻·柯林斯综合征：全身麻醉下的舌系带松解术
Cureus. 2021 Feb 9;13(2):e13250. doi: 10.7759/cureus.13250.
本文引用的文献
1
An analysis of mandibular volume in treacher collins syndrome.特雷彻·柯林斯综合征下颌骨体积分析
Plast Reconstr Surg. 2012 Apr;129(4):751e-753e. doi: 10.1097/PRS.0b013e318245e903.
2
Bone-anchored hearing aid (Baha) in patients with Treacher Collins syndrome: tips and pitfalls.Treacher Collins综合征患者的骨锚式助听器（Baha）：技巧与陷阱
Int J Pediatr Otorhinolaryngol. 2011 Oct;75(10):1308-12. doi: 10.1016/j.ijporl.2011.07.020. Epub 2011 Aug 11.
3
Marathon of eponyms: 20 Treacher Collins syndrome.特雷彻·柯林斯综合征 20 例
Oral Dis. 2011 Sep;17(6):619-20. doi: 10.1111/j.1601-0825.2009.01552.x.
4
Relation of the mandibular body and ramus in Treacher Collins syndrome.下颌骨体与升支在特雷彻·柯林斯综合征中的关系。
J Craniofac Surg. 2011 Jan;22(1):302-5. doi: 10.1097/SCS.0b013e3181f7df87.
5
Bilateral orbitozygomatic reconstruction with tissue-engineered bone.组织工程骨用于双侧眶颧重建。
J Craniofac Surg. 2010 Sep;21(5):1612-4. doi: 10.1097/SCS.0b013e3181edc829.
6
Mandibular distraction osteogenesis for pediatric airway management.小儿气道管理的下颌骨牵张成骨术
J Oral Maxillofac Surg. 2010 Jul;68(7):1512-23. doi: 10.1016/j.joms.2009.09.099. Epub 2010 Apr 22.
7
Mandibular deformities: single-vector distraction techniques for a multivector problem.下颌骨畸形：针对多向量问题的单向量牵张技术
J Craniofac Surg. 2009 Sep;20(5):1468-72. doi: 10.1097/SCS.0b013e3181b09ab2.
8
Reconstruction of microtia.小耳畸形的重建。
Plast Reconstr Surg. 2009 Jul;124(1 Suppl):14e-26e. doi: 10.1097/PRS.0b013e3181aa0e79.
9
Clinical application of curvilinear distraction osteogenesis for correction of mandibular deformities.曲线式牵张成骨术在矫正下颌骨畸形中的临床应用。
J Oral Maxillofac Surg. 2009 May;67(5):996-1008. doi: 10.1016/j.joms.2009.01.010.
10
Microsurgical correction of facial contour deformities in patients with craniofacial malformations: a 15-year experience.颅面畸形患者面部轮廓畸形的显微外科矫正：15年经验
Plast Reconstr Surg. 2008 Jun;121(6):368e-378e. doi: 10.1097/PRS.0b013e3181707194.
Zotero 插件