上颌侧切牙和第三磨牙非综合征型合并发育不全的家族聚集模式

C. Albu, Maria-Angelica Bencze, A. Dragomirescu, C. Vlădan, Ș. Albu, I. Stanciu, Romina-Christiana Pavlovici, E. Ionescu
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引用次数: 0

摘要

先天性缺牙是最常见的牙齿畸形,指牙齿的胚芽发育不充分,不能使牙齿组织分化。本研究旨在确定遗传调查对先天性侧门牙缺失儿童口腔健康相关生活质量的重要性。我们报告一项由罗马尼亚布加勒斯特A.S.医学遗传学部门进行的基因研究,该病例为一名患者(16岁男孩),在恒牙列中表现为双侧上颌侧切牙发育不全,这是一种连续三代的遗传性非综合征性家族性下颌缺损,表明常染色体显性遗传,并伴有上颌第三磨牙发育不全。在获得患者签署的知情同意书后,对患者进行口腔视觉检查和放射学检查,并进行口腔摄影检查、家族史调查、家谱调查和研究家庭系谱分析。通过对先天性侧切牙缺失的基因调查,可以计算后代的异常复发风险,并对受影响的家庭进行直接和专门的监测,以限制潜在的并发症。
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Familial Aggregation Pattern of Non-Syndromic Combined Aplasia of Maxillary Lateral Incisors and Third Molars
Congenitally missing teeth, the most common dental anomaly, refers to teeth whose germ did not develop sufficiently to allow the differentiation of the dental tissues. This study aimed to determine the importance of genetic investigations on oral health-related quality of life in children with congenitally missing lateral incisors. We are presenting a genetic study performed by the A.S. Division of Medical Genetics, in Bucharest, Romania, in the case of a patient (16-year-old boy) presenting bilateral maxillary lateral incisor agenesis in the permanent dentition, a hereditary, non-syndromic familial hypodontia in three successive generations, which suggest an autosomal dominant inheritance, combined with aplasia of maxillary third molars. The oral visual examination and the radiological exam of the patient were completed with the oral photographic examination, the family historyinvestigation, the pedigree, and the analysis of the studied family’s genealogical tree, after acquiring the signed informed consent of the patient. The genetic investigations of the congenitally missing lateral incisors, allow the calculation of the anomaly recurrence risk amongst offspring, and the direct and specialized monitoring of affected families, in order to limit the potential complications.
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