PDF(Pubmed)
Abstract：
Background and Objectives: Type I dentin dysplasia (DD-I) is a rare genetic disorder with autosomal dominant or recessive inheritance at risk of late or long-misunderstood diagnosis because the teeth, compared to other degenerative dentin diseases, do not have coronal defects and/or alterations but only at the root level (absent, conical, pointed roots, and obliterated pulp canals). The first radiographic suspicion often occurs only in case of sudden mobility and/or abscesses of the permanent teeth. Genetic tests confirm the diagnosis. Case Presentation: This case report describes the oral and radiographic characteristics of two siblings, 12 and 10 years old, a male and a female, at an early age affected by DD-I, whose diagnosis was made for a first orthodontic visit. The father and the older child had already undergone dental and orthodontic treatments, respectively, without the disease being suspected by the dentist. Results: Genetic tests support the diagnosis of DD-I. Following the diagnosis, the patients began a process of close periodic checks every 3-4 months to monitor their situation. The male child lost upper lateral incisors, which were then replaced with a light nylon removable prosthesis. Conclusions: The ability to recognize the radiographic features characteristic of DD-I is very important to avoid prejudicial diagnostic delays and to be able to plan the long-term treatment of these patients better, especially when the pathology was primarily misrecognized in the family.
摘要：
背景和目的:I型牙本质发育不良(DD-I)是一种罕见的遗传性疾病,具有常染色体显性或隐性遗传,与其他退行性牙本质疾病相比，没有冠状缺陷和/或改变，但仅在根部(不存在，圆锥形,圆锥形尖的根,和抹杀的纸浆运河）。第一次放射学怀疑通常仅在恒牙突然移动和/或脓肿的情况下发生。基因测试证实了诊断。病例介绍：本病例报告描述了两个兄弟姐妹的口腔和影像学特征，12岁和10岁，一男一女,在受DD-I影响的早期，他的诊断是为第一次正畸就诊。父亲和大孩子已经接受了牙科和正畸治疗，分别,没有牙医怀疑这种疾病。结果：基因检测支持DD-I的诊断。在诊断之后,患者开始每3-4个月进行一次密切的定期检查，以监测他们的情况。男孩失去了上外侧切牙，然后用轻质尼龙可移动假体代替。结论：识别DD-I的影像学特征的能力对于避免偏见的诊断延迟以及能够更好地计划这些患者的长期治疗非常重要，尤其是当病理在家庭中被错误识别时。
