目的:探讨Tr eacher-col l i ns综合征眼睑畸形的治疗方法。方法:应用上睑重睑线切口,形成上睑眼轮匝肌蒂皮瓣,转移修复下睑缺损,同时行外眦复位。结果:2007～2010年间笔者共治疗了3例患者,术后恢复良好,皮瓣均完全成活,随访半年,取得...目的:探讨Tr eacher-col l i ns综合征眼睑畸形的治疗方法。方法:应用上睑重睑线切口,形成上睑眼轮匝肌蒂皮瓣,转移修复下睑缺损,同时行外眦复位。结果:2007～2010年间笔者共治疗了3例患者,术后恢复良好,皮瓣均完全成活,随访半年,取得了满意的效果。结论:应用上睑眼轮匝肌蒂皮瓣修复Treacher-col l i ns综合征眼睑畸形,可Ⅰ期完成下睑缺损和外眦移位的修复,手术方法简单可靠,可获得满意的长期效果。展开更多
Treacher Collins syndrome is caused by the maldevelopment of the first and second branchial arches. It is characterized by mandibulofacial dysostosis and has the following features: outward and downward obliquity of l...Treacher Collins syndrome is caused by the maldevelopment of the first and second branchial arches. It is characterized by mandibulofacial dysostosis and has the following features: outward and downward obliquity of lateral canthi, colobomas of the lateral 1/3 of. the lower eyelids, flattening of malar bone, absence of zygomatic arches, a small and receding chin, sometimes accomapanied with small ears and cleft palate. In 8 cases, the authors reconstructed malar hypoplasia and micrognathia with bone graft and corrected the palpebral fissures. The results of this procedure are satisfactory.展开更多
Patients with Treacher Collins Syndrome (TCS) present unique airway management problems for anesthesiologists due to mandibular micrognathia, the small oral aperture, and temporomandibular joint anomalies. We describe...Patients with Treacher Collins Syndrome (TCS) present unique airway management problems for anesthesiologists due to mandibular micrognathia, the small oral aperture, and temporomandibular joint anomalies. We describe the case of a pediatric TCS patient with limited mouth opening who experienced severe airway obstruction during deep inhalation anesthesia (sevoflurane following i.v. midazolam) for routine dental work. When difficult airway management is expected, intubation of conscious patients is a well-recognized technique in adults;however, it is rarely appropriate for pediatric patients who usually do not cooperate. According to general anesthesia algorithms for pediatric patients with difficult airways, in most pediatric patients, tracheal intubation is performed after the induction of general anesthesia and some authors have reported the usefulness of LMA for maintaining airway patency in patients with TCS. However, in our case LMA could not be used because of severe limitation of mouth opening. In addition, the LMA is so bulky that it is impossible to insert a LMA into patients with narrow airway anatomy. We initially planned to carry out fiber-optic intubation while awake and under sedation if the airway patency could not be secured after the induction of anesthesia. The patient was sedated properly with midazolam and sevoflurane, and awake fiberoptic intubation was performed uneventfully. Our experience in this case highlighted that careful planning of backup contingencies is important in achieving fiberoptic intubation and maintaining airway patency in pediatric TCS patients with limited mouth opening, and that awake intubation can be successful even in pediatric patients.展开更多
目的分析探讨罕见的2型Treacher Collins综合征(Treacher Collins Syndrome 2,TCS2)家系的临床特征、分子病因学特征及治疗手段。方法完善先证者(女,8岁)的病史采集、体格检查、实验室检查、听力学检查及影像学检查,完善先证者家属的体...目的分析探讨罕见的2型Treacher Collins综合征(Treacher Collins Syndrome 2,TCS2)家系的临床特征、分子病因学特征及治疗手段。方法完善先证者(女,8岁)的病史采集、体格检查、实验室检查、听力学检查及影像学检查,完善先证者家属的体格检查,同时提取先证者的基因组DNA进行全外显子组测序,提取家系成员基因组DNA进行一代测序验证,并检索PubMed、中国知网等数据库,对截止2023年8月31日前报道的由POLR1D基因致病变异所致的TCS2临床特征进行归纳总结并分析比较。结果先证者自幼听力差,纯音测听示传导性听力损失;下颌较小,双侧耳前瘘管及杯状耳畸形;颞骨CT示左侧外耳道、双侧中耳及内耳畸形;手术植入骨导助听装置,术后听力恢复至正常水平;其母亲下颌略小。先证者POLR1D基因存在新的变异NM_015972.4:c.38_47del,为杂合变异,常染色体显性遗传,变异遗传自其母亲,根据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指南评级为致病变异。已报道病例的回顾性分析未发现TCS2的基因型-表型相关性。结论分子诊断对TCS2患者的诊断意义重大,面部形态正常者也有可能是POLR1D基因致病变异携带者,有生育出完全外显TCS2患儿的风险,适时的骨导助听装置干预能提高患者的生活质量。展开更多
文摘目的:探讨Tr eacher-col l i ns综合征眼睑畸形的治疗方法。方法:应用上睑重睑线切口,形成上睑眼轮匝肌蒂皮瓣,转移修复下睑缺损,同时行外眦复位。结果:2007～2010年间笔者共治疗了3例患者,术后恢复良好,皮瓣均完全成活,随访半年,取得了满意的效果。结论:应用上睑眼轮匝肌蒂皮瓣修复Treacher-col l i ns综合征眼睑畸形,可Ⅰ期完成下睑缺损和外眦移位的修复,手术方法简单可靠,可获得满意的长期效果。
文摘Treacher Collins syndrome is caused by the maldevelopment of the first and second branchial arches. It is characterized by mandibulofacial dysostosis and has the following features: outward and downward obliquity of lateral canthi, colobomas of the lateral 1/3 of. the lower eyelids, flattening of malar bone, absence of zygomatic arches, a small and receding chin, sometimes accomapanied with small ears and cleft palate. In 8 cases, the authors reconstructed malar hypoplasia and micrognathia with bone graft and corrected the palpebral fissures. The results of this procedure are satisfactory.
文摘Patients with Treacher Collins Syndrome (TCS) present unique airway management problems for anesthesiologists due to mandibular micrognathia, the small oral aperture, and temporomandibular joint anomalies. We describe the case of a pediatric TCS patient with limited mouth opening who experienced severe airway obstruction during deep inhalation anesthesia (sevoflurane following i.v. midazolam) for routine dental work. When difficult airway management is expected, intubation of conscious patients is a well-recognized technique in adults;however, it is rarely appropriate for pediatric patients who usually do not cooperate. According to general anesthesia algorithms for pediatric patients with difficult airways, in most pediatric patients, tracheal intubation is performed after the induction of general anesthesia and some authors have reported the usefulness of LMA for maintaining airway patency in patients with TCS. However, in our case LMA could not be used because of severe limitation of mouth opening. In addition, the LMA is so bulky that it is impossible to insert a LMA into patients with narrow airway anatomy. We initially planned to carry out fiber-optic intubation while awake and under sedation if the airway patency could not be secured after the induction of anesthesia. The patient was sedated properly with midazolam and sevoflurane, and awake fiberoptic intubation was performed uneventfully. Our experience in this case highlighted that careful planning of backup contingencies is important in achieving fiberoptic intubation and maintaining airway patency in pediatric TCS patients with limited mouth opening, and that awake intubation can be successful even in pediatric patients.
文摘目的分析探讨罕见的2型Treacher Collins综合征(Treacher Collins Syndrome 2,TCS2)家系的临床特征、分子病因学特征及治疗手段。方法完善先证者(女,8岁)的病史采集、体格检查、实验室检查、听力学检查及影像学检查,完善先证者家属的体格检查,同时提取先证者的基因组DNA进行全外显子组测序,提取家系成员基因组DNA进行一代测序验证,并检索PubMed、中国知网等数据库,对截止2023年8月31日前报道的由POLR1D基因致病变异所致的TCS2临床特征进行归纳总结并分析比较。结果先证者自幼听力差,纯音测听示传导性听力损失;下颌较小,双侧耳前瘘管及杯状耳畸形;颞骨CT示左侧外耳道、双侧中耳及内耳畸形;手术植入骨导助听装置,术后听力恢复至正常水平;其母亲下颌略小。先证者POLR1D基因存在新的变异NM_015972.4:c.38_47del,为杂合变异,常染色体显性遗传,变异遗传自其母亲,根据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指南评级为致病变异。已报道病例的回顾性分析未发现TCS2的基因型-表型相关性。结论分子诊断对TCS2患者的诊断意义重大,面部形态正常者也有可能是POLR1D基因致病变异携带者,有生育出完全外显TCS2患儿的风险,适时的骨导助听装置干预能提高患者的生活质量。
