Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Mar-Apr;13(2):169-176.
doi: 10.1016/j.jobcr.2023.01.001. Epub 2023 Jan 6.

Primary failure of eruption: From molecular diagnosis to therapeutic management

Delphine Wagner  1   2   3 , Tristan Rey  4   5 , Marie-Cécile Maniere  1   2   6 , Sarah Dubourg  2 , Agnès Bloch-Zupan  1   2   4   7 , Marion Strub  1   2   6
Affiliations

Primary failure of eruption: From molecular diagnosis to therapeutic management

Delphine Wagner et al. J Oral Biol Craniofac Res. 2023 Mar-Apr.

Erratum in

Abstract

Introduction: Primary Failure of Eruption (PFE) is a rare condition affecting posterior teeth eruption resulting in a posterior open bite malocclusion. Differential diagnosis like ankylosis or mechanical eruption failure should be considered. For non-syndromic forms, mutations in PTH1R, and recently in KMT2C genes are the known etiologies. The aim of this work was to describe the variability of clinical presentations of PFE associated with pathogenic variants of PTHR1.

Material and methods: Diagnosis of non-syndromic PFE has been suggested for three members of a single family. Clinical and radiological features were collected, and genetic analyses were performed.

Results: The clinical phenotype (type and number of involved teeth, depth of bone inclusions, functional consequences) is variable within the family. Severe tooth resorptions were detected. A heterozygous substitution in PTH1R (NM_000316.3): c.899T > C was identified as a class 4 likely pathogenic variant. The multidisciplinary management is described involving oral biology, pediatric dentistry, orthodontics, oral surgery, and prosthodontics.

Conclusion: In this study, we report a new PTH1R variant involved in a familial form of PFE with variable expressivity. Therapeutic care is complex and difficult to systematize, hence the lack of evidence-based recommendations and clinical guidelines.

Keywords: Case report; PTH1R gene; Primary failure of eruption; Tooth resorption.

PubMed Disclaimer

Figures

Image 1
Graphical abstract
Fig. 1
Fig. 1
Intra oral photographs of a 40-year-old patient affected by primary failure of eruption. The four posterior sectors are severely affected and associated with a bilateral open bite.
Fig. 2
Fig. 2
Automatic panoramic image reconstruction schema from dental computed tomography images of severe primary failure of eruption in a 40-year-old patient. The posterior teeth are impacted even in the absence of a mechanical obstacle.
Fig. 3
Fig. 3
Severe resorptions detected in the teeth affected by primary failure of eruption (computed tomography images).
Fig. 4
Fig. 4
Intra oral photographs of a 12-year-old girl affected by primary failure of eruption (PFE). The upper right primary second molar is affected. The situation of adjacent teeth could also be related to PFE.
Fig. 5
Fig. 5
Automatic panoramic image reconstruction schema from dental computed tomography images in a 12-year-old girl affected by primary failure of eruption.
Fig. 6
Fig. 6
Intra oral photographs of a 9-year-old girl affected by primary failure of eruption showing the incomplete eruption of the lower primary molars while the first permanent molars are in occlusion.
Fig. 7
Fig. 7
Primary failure of eruption in mixed denture (automatic panoramic image reconstruction schema from dental computed tomography images).
Fig. 8
Fig. 8
Panoramic X-ray 18 month after surgery.
See this image and copyright information in PMC

References

    1. Proffit W.R., Vig K.W. Primary failure of eruption: a possible cause of posterior open-bite. Am. J Orthod. 1981;80:173–190. - PubMed
    1. Hanisch M., Hanisch L., Kleinheinz J., Jung S. Primary failure of eruption (PFE): a systematic review. Head Face Med. 2018;15(14):5. - PMC - PubMed
    1. Grippaudo C., D'Apolito I., Cafiero C., Re A., Chiurazzi P., Frazier-Bowers S.A. Validating clinical characteristic of primary failure of eruption (PFE) associated with PTH1R variants. Prog Orthod. 2021;13(1):43. 22. - PMC - PubMed
    1. Grippaudo C., Cafiero C., D'Apolito I., Ricci B., Frazier-Bowers S.A. Primary failure of eruption: clinical and genetic findings in the mixed dentition. Angle Orthod. 2018;88:275–282. - PMC - PubMed
    1. Frazier-Bowers S.A., Koehler K.E., Ackerman J.L., Proffit W.R. Primary failure of eruption: further characterization of a rare eruption disorder. Am J Orthod Dentofacial Orthop. 2007;131:578. - PubMed