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Key words:
- congenital out ear and middle malformation /
- microtia /
- diagnosis /
- therapy /
- syndrome
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[1] LUQUETTI D V, LEONCINI E, MASTROIACOVO P.Microtia-anotia:aglobal review of prevalence rates[J].Birth Defects Res A Clin Mol Teratol, 2011, 91:813-822.
[2] 朱军, 王艳萍, 梁娟, 等.1988-1992年全国先天性无耳和小耳畸形发病率的抽样调查[J].中华耳鼻咽喉科杂志, 2000, 35(1):61-64.
[3] LI C L, CHEN Y, SHAN J, et al.Phenotypic characterization and risk factors for microtia in East China, a case-control study[J].Int J Pediatr Otorhinolaryngol, 2014, 78:2060-2063.
[4] 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.
[5] MASTROIACOVO P, CORCHIA C, BOTTO L D, et al.Epidemiology and genetics of microtia-anotia:a registry based study on over one million births[J].J Med Genet, 1995, 32:453-457.
[6] FEENSTRA I, VISSERS L E, PENNINGS R J, et al.Disruption of teashirt zinc finger homeobox 1is associated with congenital aural atresia in humans[J].Am J Hum Genet, 2011, 89:813-819.
[7] NG S B, BUCKINGHAM K J, LEE C, et al.Exome sequencing identifies the cause of a mendelian disorder[J].Nat Genet, 2010, 42:30-35.
[8] LINES M A, HUANG L, SCHWARTZENTRUBER J, et al.Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2causes mandibulofacial dysostosis with microcephaly[J].Am J Hum Genet, 2012, 90:369-377.
[9] VINCENT M, COLLET C, VERLOES A, et al.Large deletions encompassing the TCOF1 and CAMK2 Agenes are responsible for Treacher Collins syndrome with intellectual disability[J].Eur J Hum Genet, 2014, 22:52-56.
[10] 中华耳鼻咽喉头颈外科杂志编辑委员会耳科组, 中华医学会耳鼻咽喉头颈外科学分会耳科学组, 中华医学会整形外科学分会耳再造学组.先天性外中耳畸形临床处理策略专家共识[J].中华耳鼻咽喉头颈外科杂志, 2015, 50(3):182-186.
[11] SYLVESTER D C, GARDNER R, REILLY P G, et al.Audiologic and Surgical Outcomes of a Novel, Nonpercutaneous, Bone Conducting Hearing Implant[J].Otol Neurotol, 2013, 34:922-926.
[12] BRIGGS R, Van HASSELT A, LUNTZ M, et al.Clinical performance of a new magnetic bone conduction hearing implant system:results from a prospective, multicenter, clinical investigation[J].Otol Neurotol, 2015, 36:834-841.
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