Vinereanu Arina, Munteanu Aneta, Clauss Francois, Gorduza Eusebiu Vlad
Faculty of Dentistry, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Faculty of Dental Surgery, University of Strasbourg, 67081 Strasbourg, France.
Children (Basel). 2024 Jan 25;11(2):152. doi: 10.3390/children11020152.
Primary failure of eruption (PFE) is a rare non-syndromic condition involving total or partial non-eruption of posterior teeth in the absence of mechanical obstruction. This paper presents the case of a healthy girl referred at age 4 for asymmetry of the upper arch. Clinical examination confirmed a slight shift of the upper midline to the left, with no erupted teeth distal to the upper left canine and a left posterior open bite. Panoramic X-rays showed delayed intraosseous development of the lateral left upper teeth compared to the right side. Clinic and radiographic follow-up during the next 9 years showed that 26 had not erupted by almost 13 years of age, 27 had delayed development and an unusual shape, and there was an agenesis in 24 and 25. Genetic analysis using the single-gene sequencing method did not detect any known disease-causing or rare pathogenic variants that could explain the patient's phenotype. Even when detected early, PFE raises difficult problems with regard to diagnosis and ortho-surgical treatment planning due to the impossibility of accurately predicting its evolution. Tooth agenesis on the same arch worsens the prognosis and adds challenges to planning the treatment. Close long-term follow-up and timely adjustment of the treatment plan in accordance with the evolution of the case are needed.
萌出原发性失败（PFE）是一种罕见的非综合征性疾病，表现为后牙全部或部分未萌出，且不存在机械性阻塞。本文介绍了一名健康女孩的病例，她在4岁时因上颌牙弓不对称前来就诊。临床检查证实上颌中线轻度向左偏移，左上尖牙远中无萌出牙齿，左侧后牙开牙合。全景X线片显示，与右侧相比，左侧上颌外侧牙齿的骨内发育延迟。在接下来的9年里进行的临床和影像学随访显示，到13岁时，26颗牙齿几乎未萌出，27颗牙齿发育延迟且形状异常，24和25号牙先天性缺失。使用单基因测序方法进行的基因分析未检测到任何可解释患者表型的已知致病或罕见致病变异。即使早期发现，由于无法准确预测其发展，PFE在诊断和正颌外科治疗计划方面也会带来难题。同一牙弓上的牙齿先天性缺失会使预后恶化，并给治疗计划增加挑战。需要进行密切的长期随访，并根据病例进展及时调整治疗方案。
