Objective:Using chromosome analysis of a Chinese pedigree to investigate the genetic relationship between chromosome and congenital malformation of the external and middle ear combined with pre-auricular fistula.Metho...Objective:Using chromosome analysis of a Chinese pedigree to investigate the genetic relationship between chromosome and congenital malformation of the external and middle ear combined with pre-auricular fistula.Methods: Clinical data of all members from 3 family with congenital malformation of the external and middle ear combined with pre-auricular fistula were collected. A pedigrees chart of each family was draw Venous blood samples of all participants were taken for karyotype analysis.Results: A total of 21 members in three generations from three families were screened. Chromosomal abnormalities were detected in 9 people, including 3 patients and 6 carriers. The carriers were fathers and paternal grandparents. Structural abnormalities in chromosomes 1, 2 and 11 were identified.Conclusion:The genetic patterns of congenital malformation of the external and middle ear combined with the pre- auricular fistula in these three families are consistent with autosomal recessive inheritance. Family survey is helpful for further study of this disease.展开更多
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
目的探讨先天性外中耳畸形患者的听力与颞骨畸形的相关性。方法对50例(60耳)先天性外中耳畸形患者行纯音测听、听性脑干反应(ABR)和颞骨HRCT检查,比较其听力与颞骨畸形的相关性。结果先天性外中耳畸形患者听力下降主要以传导性聋为主,...目的探讨先天性外中耳畸形患者的听力与颞骨畸形的相关性。方法对50例(60耳)先天性外中耳畸形患者行纯音测听、听性脑干反应(ABR)和颞骨HRCT检查,比较其听力与颞骨畸形的相关性。结果先天性外中耳畸形患者听力下降主要以传导性聋为主,平均纯音阈值为64.08±13.07 dB HL,平均气骨导差为53.28±12.05 dB HL,ABR检查结果示平均阈值为76.86±11.89dB HL,先天性外中耳畸形患者听阈与耳廓畸形分级呈正相关,与HRCT总分呈负相关。听力与听骨链、中耳发育情况和面神经发育有关,而与蜗窗关系尚待进一步研究。结论先天性外中耳畸形患者术前进行听力检查和颞骨CT检查可初步评估外耳、中耳发育程度,进而指导手术治疗。展开更多
目的分析先天性中外耳畸形患者纯音听力特点。方法回顾性分析213例(253耳)先天性中外耳畸形患者的纯音听力特点。结果纯音测听显示传导性耳聋198耳(78.26%)、混合性耳聋53耳(20.95%)、感音神经性耳聋2耳(0.78%)。将语频段0.5KHz、1k Hz...目的分析先天性中外耳畸形患者纯音听力特点。方法回顾性分析213例(253耳)先天性中外耳畸形患者的纯音听力特点。结果纯音测听显示传导性耳聋198耳(78.26%)、混合性耳聋53耳(20.95%)、感音神经性耳聋2耳(0.78%)。将语频段0.5KHz、1k Hz、2KHz、4k Hz中任一频率未引出骨导或气导听力的患者剔除后余206例(246耳),平均气导阈值进行分析:以中重度耳聋(55d-70d B HL)51.63%(127/246),重度耳聋(71-90d B HL)33.74%(83/246)为主;其中传导性耳聋和混合性耳聋中重度,重度所占比例分别为59.60%(118/198),26.77%(53/198);18.75%(9/48),62.50%(30/48)。在56-80 d B HL范围内传导性耳聋、混合性耳聋所占比例分别为82.83%(164/198)、58.33%(28/48)。对混合性耳聋骨导纯音测听结果分析示:主要在2KHz处骨导听力有下降,占72.92%,平均阈值为30.42±7.84d B HL(10-60 d B HL),结论先天性中外耳畸形患者主要表现为传导性耳聋,以中重度、重度耳聋为主。骨导听力损失主要发生在2KHz,在2KHz处平均骨导听阈有轻度下降。展开更多
文摘Objective:Using chromosome analysis of a Chinese pedigree to investigate the genetic relationship between chromosome and congenital malformation of the external and middle ear combined with pre-auricular fistula.Methods: Clinical data of all members from 3 family with congenital malformation of the external and middle ear combined with pre-auricular fistula were collected. A pedigrees chart of each family was draw Venous blood samples of all participants were taken for karyotype analysis.Results: A total of 21 members in three generations from three families were screened. Chromosomal abnormalities were detected in 9 people, including 3 patients and 6 carriers. The carriers were fathers and paternal grandparents. Structural abnormalities in chromosomes 1, 2 and 11 were identified.Conclusion:The genetic patterns of congenital malformation of the external and middle ear combined with the pre- auricular fistula in these three families are consistent with autosomal recessive inheritance. Family survey is helpful for further study of this disease.
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.
文摘目的探讨先天性外中耳畸形患者的听力与颞骨畸形的相关性。方法对50例(60耳)先天性外中耳畸形患者行纯音测听、听性脑干反应(ABR)和颞骨HRCT检查,比较其听力与颞骨畸形的相关性。结果先天性外中耳畸形患者听力下降主要以传导性聋为主,平均纯音阈值为64.08±13.07 dB HL,平均气骨导差为53.28±12.05 dB HL,ABR检查结果示平均阈值为76.86±11.89dB HL,先天性外中耳畸形患者听阈与耳廓畸形分级呈正相关,与HRCT总分呈负相关。听力与听骨链、中耳发育情况和面神经发育有关,而与蜗窗关系尚待进一步研究。结论先天性外中耳畸形患者术前进行听力检查和颞骨CT检查可初步评估外耳、中耳发育程度,进而指导手术治疗。
文摘目的分析先天性中外耳畸形患者纯音听力特点。方法回顾性分析213例(253耳)先天性中外耳畸形患者的纯音听力特点。结果纯音测听显示传导性耳聋198耳(78.26%)、混合性耳聋53耳(20.95%)、感音神经性耳聋2耳(0.78%)。将语频段0.5KHz、1k Hz、2KHz、4k Hz中任一频率未引出骨导或气导听力的患者剔除后余206例(246耳),平均气导阈值进行分析:以中重度耳聋(55d-70d B HL)51.63%(127/246),重度耳聋(71-90d B HL)33.74%(83/246)为主;其中传导性耳聋和混合性耳聋中重度,重度所占比例分别为59.60%(118/198),26.77%(53/198);18.75%(9/48),62.50%(30/48)。在56-80 d B HL范围内传导性耳聋、混合性耳聋所占比例分别为82.83%(164/198)、58.33%(28/48)。对混合性耳聋骨导纯音测听结果分析示:主要在2KHz处骨导听力有下降,占72.92%,平均阈值为30.42±7.84d B HL(10-60 d B HL),结论先天性中外耳畸形患者主要表现为传导性耳聋,以中重度、重度耳聋为主。骨导听力损失主要发生在2KHz,在2KHz处平均骨导听阈有轻度下降。
