1例先天颅锁骨发育不全综合征成年患者的正畸治疗

发布时间：2018-06-06 15:30

本文选题：先天颅锁骨发育不全综合征 + 多生牙　；参考：《大连医科大学》2014年硕士论文

【摘要】：目的：探讨先天颅锁骨发育不全综合征成年患者的正畸治疗效果。材料和方法：选取2011年大连医科大学附属二院收治的先天颅锁骨发育不全综合征患者1例，男性，23岁，汉族。恒牙列，双侧磨牙、尖牙为近中关系，上颌中线左偏1mm，下颌中线正中，spee曲线正常，前牙反牙合；曲面断层片显示：上颌4个多生牙，下颌5个多生牙；11，13，15上颌骨内阻生埋伏齿。取患者外周血，提取基因组DNA，将PCR产物进行琼脂糖凝胶电泳分离后，回收目的条带，，送北京华大基因公司测序。结果：患者在RUNX2基因外显子3存在cDNA674位GA的单碱基突变，该突变位点不存在于正常对照中，属于错义突变，使得编码第204位的氨基酸的密码子CGG替换成CAG，进而导致其编码的氨基酸由精氨酸变成谷氨酰胺。进一步确诊为先天颅锁骨发育不全综合征。21,23,24,25,34,44助萌成功并纳入牙列，上下牙列牙齿排齐平整，；反牙合解除；双侧尖牙、磨牙趋于中性关系；所有牙齿接近达到尖窝交错的咬合关系。本病例所有助萌齿，均是在局麻下手术暴露，暴露后即刻粘接正畸附件，即刻与主弓丝结扎加力助萌。24、34、44为切龈助萌；23、25为开窗助萌；考虑到前牙的龈缘水平和临床冠高度，21为缝合式助萌。结论：先天颅锁骨发育不全综合征是一种极为罕见的常染色体显性遗传的骨骼系统受累疾病。此疾病中，大量多生牙和埋伏阻生的恒牙给治疗带来了极大的挑战。由于该病极为罕见，相关的治疗指导并不成熟，相关文献报道并不全面。通过临床治疗发现，正畸治疗对先天颅锁骨发育不全综合征患者疗效显著。早期确诊和基因检测对该疾病的治疗有重要作用。治疗时机的把握尤为关键。由于需要多次开窗助萌和后期牙龈修整，一个优秀治疗团队的精诚合作是必不可少的。
[Abstract]:Objective: To explore the effect of orthodontic treatment in adult patients with congenital clavicular dysplasia syndrome.
Materials and methods: 1 cases of congenital cranial clavicular dysplasia were selected from the Second Affiliated Hospital of Dalian Medical University in 2011. Men, 23 years old, Han, permanent teeth, bilateral molars, and canines were closely related, the middle line of the upper jaw was 1mm, the midline of the mandible was middle, the spee curve was normal, the anterior teeth were anti teeth, and the surface fault showed 4 more maxillary slices. Teeth and mandibular 5 multiple teeth; 11,13,15 maxillofacial impacted embedded teeth. Take the peripheral blood from the patients, extract the genomic DNA, and separate the PCR products by agarose gel electrophoresis, and collect the target bands and send the Beijing Huada gene company to sequence.
Results: the patient had a single base mutation of cDNA674 bit GA in exon 3 of the RUNX2 gene, which did not exist in the normal control and belonged to a missense mutation, which made the codon CGG of the amino acid encoded in the 204th bit to be CAG, leading to the encoding of the amino acid from arginine to glutamine. Further diagnosis was a congenital clavicular hair. The.21,23,24,25,34,44 was successful and included in the dentition, the upper and lower teeth were leveled, the teeth of the upper and lower teeth were flat, the teeth were relieved, the bilateral canines and molars tended to be neutral; all the teeth were close to the interlaced relationship between the cusp fossa. All the teeth in this case were exposed under local anesthesia and immediately adhered to orthodontic attachment after exposure. Immediately ligated with the main arch wire to ligate and add force.24,34,44 to help the gingiva; 23,25 for the opening of the window; considering the level of the gingival edge of the anterior teeth and the clinical crown height, 21 is a suture aid.
Conclusion: congenital clavicular dysplasia syndrome is an extremely rare autosomal dominant skeletal system affected disease. In this disease, a large number of multiple teeth and impacted permanent teeth have brought great challenges to the treatment. The disease is rare, and the related treatment guidance is not mature, and the related literature is not comprehensive. Clinical treatment has been found that orthodontic treatment has a significant effect on patients with congenital clavicular dysplasia syndrome. Early diagnosis and gene detection have an important role in the treatment of the disease. The timing of treatment is particularly critical. The sincere cooperation of an excellent treatment team is essential because of the need for multiple window opening and later gingival repair. Yes.
【学位授予单位】：大连医科大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R783.5

【共引文献】