BACKGROUND We report a rare case of first branchial cleft anomaly(FBCA)accompanied by bony atresia of the external auditory canal,middle ear malformation,and location malformation of the facial nerve according to the ...BACKGROUND We report a rare case of first branchial cleft anomaly(FBCA)accompanied by bony atresia of the external auditory canal,middle ear malformation,and location malformation of the facial nerve according to the intraoperative findings.CASE SUMMARY A 19-year-old male patient presented to our department with a mass behind the right earlobe and recurrent postauricular swelling and pain since childhood,he also had severe hearing loss in the right ear since birth.The patient underwent surgery including mass removal,mastoidectomy,and simultaneous meatoplasty and ossiculoplasty under microscopy.No facial palsy or recurrence was noted during postoperative follow-up.CONCLUSION FBCAs are rare,and to our knowledge,this is the first report of FBCA accompanied by external auditory canal bony atresia,middle ear malformation,and location malformation of the facial nerve.An effective postauricular approach under microscopy facilitated complete lesion removal and simultaneous otologic reconstruction.展开更多
Importance:First branchial cleft anomalies(FBCAs)are rare congenital malformations,accounting for<8%of all branchial cleft anomalies.However,little is currently known about the cause of FBCAs at the molecular level...Importance:First branchial cleft anomalies(FBCAs)are rare congenital malformations,accounting for<8%of all branchial cleft anomalies.However,little is currently known about the cause of FBCAs at the molecular level.Objective:To identify genomic alterations related to the genetic etiology of FBCAs in Chinese children.Methods:We performed whole-exome sequencing of samples from 10 pediatric patients with FBCAs.Data analysis was carried out using the Burrow-Wheeler Alignment software package,and the dbSNP database for comparisons.Rare variants were further validated by Sanger sequencing.Insertion/deletions(indels)were examined using the Genome Analysis Toolkit.Results:We identified 14 non-synonymous mutations in seven potential FBCA-susceptibility genes(TRAPPC12,NRP2,NPNT,SH3RF2,RHPN1,TENM4,and ARMCX4).We also detected 133 shared small indels in 125 genes.Gene Ontology analysis indicated that most of the identified genes played critical roles in development and differentiation pathways involved in regulating organ development.Interpretation:We characterized the mutational landscape in pathways involved in development and differentiation in Chinese children with FBCA.The results identified potential pathogenic genes and mutations related to FBCA,and provide molecular-level support for the branchial theory of FBCA pathogenesis.展开更多
目的总结小儿第一鳃裂畸形的临床诊治经验和早中期疗效。方法回顾性分析2010年1月～2017年1月华中科技大学同济医学院附属武汉儿童医院收治的22例第一鳃裂畸形患儿的临床特点、诊治过程和预后转归。其中男14例,女8例;年龄中位数4.0岁(1...目的总结小儿第一鳃裂畸形的临床诊治经验和早中期疗效。方法回顾性分析2010年1月～2017年1月华中科技大学同济医学院附属武汉儿童医院收治的22例第一鳃裂畸形患儿的临床特点、诊治过程和预后转归。其中男14例,女8例;年龄中位数4.0岁(11月～12岁),体质量中位数14kg(10～37kg)。术前合并感染11例,有切开引流病史8例。随访中位数46个月(7～84个月)。结果 Work I型13例,II型9例。囊肿2例,窦道9例,瘘管11例。全部行手术切除治疗,术中见病变位于面神经之上15例,面神经深部2例,走行在面神经分支中5例。术后3例面神经麻痹(其中1例在随访过程中逐渐好转,2例为永久性面瘫),无外耳道狭窄发生。随访期间有2例复发,共接受了3次再手术。结论手术完整切除囊肿或瘘管是治疗第一鳃裂畸形及避免复发的唯一方法,术中根据病变与面神经的关系选择相应的路径可有效的避免并发症。展开更多
文摘BACKGROUND We report a rare case of first branchial cleft anomaly(FBCA)accompanied by bony atresia of the external auditory canal,middle ear malformation,and location malformation of the facial nerve according to the intraoperative findings.CASE SUMMARY A 19-year-old male patient presented to our department with a mass behind the right earlobe and recurrent postauricular swelling and pain since childhood,he also had severe hearing loss in the right ear since birth.The patient underwent surgery including mass removal,mastoidectomy,and simultaneous meatoplasty and ossiculoplasty under microscopy.No facial palsy or recurrence was noted during postoperative follow-up.CONCLUSION FBCAs are rare,and to our knowledge,this is the first report of FBCA accompanied by external auditory canal bony atresia,middle ear malformation,and location malformation of the facial nerve.An effective postauricular approach under microscopy facilitated complete lesion removal and simultaneous otologic reconstruction.
基金Beijing Natural Science Foundation Program and Scientific Research Key Program of Beijing Municipal Commission of Education(KZ201810025034)Fund of Beijing Excellent Talent Training(2017000021469G252)+1 种基金Special Fund of The Pediatric Medical Coordinated Development Center of Beijing Municipal Administration of Hospitals(XTCX201806)Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, Beihang University & Capital Medical University, Beijing(BHME- 201804)
文摘Importance:First branchial cleft anomalies(FBCAs)are rare congenital malformations,accounting for<8%of all branchial cleft anomalies.However,little is currently known about the cause of FBCAs at the molecular level.Objective:To identify genomic alterations related to the genetic etiology of FBCAs in Chinese children.Methods:We performed whole-exome sequencing of samples from 10 pediatric patients with FBCAs.Data analysis was carried out using the Burrow-Wheeler Alignment software package,and the dbSNP database for comparisons.Rare variants were further validated by Sanger sequencing.Insertion/deletions(indels)were examined using the Genome Analysis Toolkit.Results:We identified 14 non-synonymous mutations in seven potential FBCA-susceptibility genes(TRAPPC12,NRP2,NPNT,SH3RF2,RHPN1,TENM4,and ARMCX4).We also detected 133 shared small indels in 125 genes.Gene Ontology analysis indicated that most of the identified genes played critical roles in development and differentiation pathways involved in regulating organ development.Interpretation:We characterized the mutational landscape in pathways involved in development and differentiation in Chinese children with FBCA.The results identified potential pathogenic genes and mutations related to FBCA,and provide molecular-level support for the branchial theory of FBCA pathogenesis.
文摘目的总结小儿第一鳃裂畸形的临床诊治经验和早中期疗效。方法回顾性分析2010年1月～2017年1月华中科技大学同济医学院附属武汉儿童医院收治的22例第一鳃裂畸形患儿的临床特点、诊治过程和预后转归。其中男14例,女8例;年龄中位数4.0岁(11月～12岁),体质量中位数14kg(10～37kg)。术前合并感染11例,有切开引流病史8例。随访中位数46个月(7～84个月)。结果 Work I型13例,II型9例。囊肿2例,窦道9例,瘘管11例。全部行手术切除治疗,术中见病变位于面神经之上15例,面神经深部2例,走行在面神经分支中5例。术后3例面神经麻痹(其中1例在随访过程中逐渐好转,2例为永久性面瘫),无外耳道狭窄发生。随访期间有2例复发,共接受了3次再手术。结论手术完整切除囊肿或瘘管是治疗第一鳃裂畸形及避免复发的唯一方法,术中根据病变与面神经的关系选择相应的路径可有效的避免并发症。
