先天性外中耳畸形(8)——相关综合征研究进展
张天宇;施宇轩;
1:复旦大学附属眼耳鼻喉科医院眼耳鼻整形外科
2:复旦大学附属眼耳鼻喉科医院耳鼻喉科研究院





1 Ingeborg B,Ljubica O,Maria L,et al.Prevalence,prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum:a registry-based study in Europe[J].Eur J Hum Genet,2014,22:1026.
2 Beleza-Meireles A,Clayton-Smith J,Saraiva MJ,et al.Oculo-auriculo-vertebral spectrum:a review of the literature and genetic update[J].J Med Genet,2014,51:635.
3 Garne E,Loane M,Dolk H,et al.Spectrum of congenital anomalies in pregnancies with pregestational diabetes[J].Birth Defects Res A Clin Mol Teratol,2012,94:134.
4 Trainor PA,Dixon J,Dixon MJ et al.Treacher Collins syndrome:etiology,pathogenesis and prevention[J].Eur JHum Genet,2008;17:275.
5 Rosa F,Coutinho MB,Ferreira JP,et al.Ear malformations,hearing loss and hearing rehabilitation in children with Treacher Collins syndrome[J].Acta Otorrinolaringol Esp,2016,67:142.
6 Vallino-Napoli LD.A profile of the features and speech in patients with mandibulofacial dysostosis[J].Cleft Palate Craniofac J,2002,39:623.
7 Dauwerse JG,Dixon J,Seland S,et al.Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome[J].Nat Genet,2011,43:20.
8 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.
9 Lindau TA,Cardoso AC,Rossi NF,et al.Anatomical changes and audiological profile in branchio-oto-renal syndrome:a literature review[J].Int Arch Otorhinolaryngol,2014,18:68.
10 Ginat DT,Ferro L,Gluth MB.Anatomic and quantitative temporal bone CT for preoperative assessment of BranchioOto-Renal syndrome[J].Clin Neuroradiol,2016,26:481.
11 Propst EJ,Blaser S,Gordon KA,et al.Temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome[J].Laryngoscope,2005,115:1855.
12 Ceruti S,Stinckens C,Cremers CW,et al.Temporal bone anomalies in the branchio-oto-renal syndrome:detailed computed tomographic and magnetic resonance imaging findings[J].Otol Neurotol,2002,23:200.
13 Hsu A,Desai N,Paldino MJ.The unwound cochlea:a specific imaging marker of Branchio-Oto-Renal syndrome[J].AJNR,2018,39:2345.
14 Krug P,Moriniere V,Marlin S,et al.Mutation screening of the EYA1,SIX1and SIX5genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5mutations[J].Hum Mutat 2011,32:183.
15 Nie X,Sun J,Gordon RE,et al.SIX1acts synergistically with TBX18in mediating ureteral smooth muscle formation[J].Development,2010,137:755.
16 Bozal-Basterra L,Martin-Ruiz I,Pirone L,et al.Truncated SALL1impedes primary cilia function in TownesBrocks syndrome[J].Am J Hum Genet,2018,102:249.
17 Miller EM,Hopkin R,Bao L,et al.Implications for genotype-phenotype predictions in Townes-Brocks syndrome:case report of a novel SALL1deletion and review of the literature[J].Am J Med Genet A,2012,158A:533.
18 Czeschik JC,Voigt C,Alanay Y,et al.Clinical and mutation data in 12patients with the clinical diagnosis of Nager syndrome[J].Hum Genet,2013,132:885.
19 Petit F,Escande F,Jourdain AS,et al.Nager syndrome:confirmation of SF3B4haploinsufficiency as the major cause[J].Clin Genet,2014,86:246.
20 Lund ICB,Else MV,Rikke C,et al.Prenatal diagnosis of Nager syndrome in a 12-week-old fetus with a whole gene deletion of SF3B4by chromosomal microarray[J].Eur J Med Genet,2016,59:48.
21 Ng SB,Buckingham KJ,Lee C,et al.Exome sequencing identifies the cause of a mendelian disorder[J].Nat Genet,2010,42:30.
22 Shalev SA,Khayat M,Etty DS,et al.Further insight into the phenotype associated with a mutation in the ORC6gene,causing Meier-Gorlin syndrome 3[J].Am J Med Genet A,2015,167A:607.
23 de Munnik SA,Otten BJ,Schoots J,et al.Meier-Gorlin syndrome:growth and secondary sexual development of a microcephalic primordial dwarfism disorder[J].Am J Med Genet A,2012,158A:2733.
24 de Munnik SA,Bicknell LS,Aftimos S,et al.Meier-Gorlin syndrome genotype-phenotype studies:35individuals with pre-replication complex gene mutations and 10without molecular diagnosis[J].Eur J Hum Genet,2012,20:598.
25 Fenwick AL,Kliszczak M,Cooper F,et al.Mutations in CDC45,Encoding an essential component of the pre-initiation complex,cause Meier-Gorlin syndrome and craniosynostosis[J].Am J Hum Genet,2016,99:125.
26 Vetro A,Savasta S,Russo Raucci-A,et al.MCM5:a new actor in the link between DNA replication and Meier-Gorlin syndrome[J].Eur J Hum Genet,2017,25:646.
27 Zentner GE,Layman WS,Martin DM,et al.Molecular and phenotypic aspects of CHD7mutation in CHARGE syndrome[J].Am J Med Genet A,2010,152A:674.
28 Jiang YH,Yuen RK,Jin X,et al.Detection of clinically relevant genetic variants in autism spectrum disorder by wholegenome sequencing[J].Am J Hum Genet,2013,93:249.
29 Balasubramanian R,Choi JH,Francescatto L,et al.Functionally compromised CHD7alleles in patients with isolated GnRH deficiency[J].Proc Natl Acad Sci USA,2014,111:17953.