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
Amygdaloid cysts are rare cystic benign tumors due to congenital malformations resulting from an anomaly of embryonic development of the upper laterocervical region, originating from the second branchial cleft. They r...Amygdaloid cysts are rare cystic benign tumors due to congenital malformations resulting from an anomaly of embryonic development of the upper laterocervical region, originating from the second branchial cleft. They represent approximately 2% of all laterocervical tumors and 6% to 85% of anomalies of the second branchial cleft. This anomaly of the second branchial cleft is a frequent reason for consultation in the pediatric population but is relatively rare in adults. We report the cases of two patients aged 23 and 34 years with no particular pathological history. They were presenting a laterocervical swelling, one right and the other left, painless, evolving for two years for the first and for 10 years for the second, gradually increasing in volume without any other associated signs the diagnosis of which after radiological exploration (ultrasound and CT scan) was that of an amygdaloid cyst. A cervicotomy with anatomopathological examination of the surgical specimen confirmed the diagnosis of the amygdaloid cyst. The objective is to analyze the anatomo-clinical and therapeutic particularities of this pathology and to compare it with data from the literature.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
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.
文摘Amygdaloid cysts are rare cystic benign tumors due to congenital malformations resulting from an anomaly of embryonic development of the upper laterocervical region, originating from the second branchial cleft. They represent approximately 2% of all laterocervical tumors and 6% to 85% of anomalies of the second branchial cleft. This anomaly of the second branchial cleft is a frequent reason for consultation in the pediatric population but is relatively rare in adults. We report the cases of two patients aged 23 and 34 years with no particular pathological history. They were presenting a laterocervical swelling, one right and the other left, painless, evolving for two years for the first and for 10 years for the second, gradually increasing in volume without any other associated signs the diagnosis of which after radiological exploration (ultrasound and CT scan) was that of an amygdaloid cyst. A cervicotomy with anatomopathological examination of the surgical specimen confirmed the diagnosis of the amygdaloid cyst. The objective is to analyze the anatomo-clinical and therapeutic particularities of this pathology and to compare it with data from the literature.
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.
