PDF(Pubmed)
Abstract：
Background: Singleton-Merten syndrome type 1 (SGMRT1) is a rare autosomal dominant disorder caused by IFIH1 variations with blood vessel calcifications, teeth anomalies, and bone defects. Aim: We aimed to summarize the oral findings in SGMRT1 through a systematic review of the literature and to describe the phenotype of a 10-year-old patient with SGMRT1 diagnosis. Results: A total of 20 patients were described in the literature, in nine articles. Eight IFIH1 mutations were described in 11 families. Delayed eruption, short roots, and premature loss of permanent teeth were the most described features (100%). Impacted teeth (89%) and carious lesions (67%) were also described. Our patient, a 10-year-old male with Singleton-Merten syndrome, presented numerous carious lesions, severe teeth malposition, especially in the anterior arch, and an oral hygiene deficiency with a 100% plaque index. The panoramic X-ray did not show any dental agenesis but revealed very short roots and a decrease in the jaw alveolar bone height. The whole-genome sequencing analysis revealed a heterozygous de novo variant in IFIH1 (NM_022168.4) c.2465G > A (p.Arg822Gln). Conclusion: Confused descriptions of oral features occurred in the literature between congenital findings and \"acquired\" pathology, especially carious lesions. The dental phenotype of these patients encompasses eruption anomalies (delayed eruption and impacted teeth) and lack of root edification, leading to premature loss of permanent teeth, and it may contribute to the diagnosis. An early diagnosis is essential to prevent teeth loss and to improve the quality of life of these patients. Systematic Review Registration: [https://www.crd.york.ac.uk/prospero/], identifier [CRD42022300025].
摘要：
背景：1型单例-Merten综合征（SGMRT1）是一种罕见的常染色体显性疾病，由IFIH1变异伴血管钙化引起，牙齿异常,和骨缺损。目的：我们旨在通过对文献的系统回顾来总结SGMRT1的口腔发现，并描述患有SGMRT1诊断的10岁患者的表型。结果：文献中描述了20例患者，在九篇文章中。在11个家族中描述了8个IFIH1突变。延迟喷发,短根,和恒牙的过早脱落是描述最多的特征(100%)。还描述了受撞击的牙齿（89％）和龋齿病变（67％）。我们的病人,一名10岁男性患有Singleton-Merten综合征,表现出许多龋齿病变，严重的牙齿错位，尤其是在前弓，和100％菌斑指数的口腔卫生不足。全景X射线没有显示任何牙体发育不全，但显示根部很短，并且颌骨牙槽骨高度降低。全基因组测序分析显示IFIH1（NM_022168.4）c.2465G>A（p。Arg822Gln）。结论：在文献中，先天性发现和“获得性”病理学之间出现了口腔特征的混淆描述，尤其是龋齿。这些患者的牙齿表型包括萌出异常（延迟萌出和阻生牙齿）和缺乏牙根矫正，导致恒牙过早脱落，它可能有助于诊断。早期诊断对于防止牙齿脱落和改善这些患者的生活质量至关重要。系统审查注册：[https://www。crd.约克。AC.英国/普华永道/]，标识符[CRD42022300025]。
