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Primary failure of eruption of teeth in two siblings with a novel mutation in the PTH1R gene

  • Case Report
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Abstract

Background

Primary failure of tooth eruption (PFE) is a rare non-syndromic disorder with prematurely ceased eruption of the posterior teeth, despite clearance by bone resorption of the eruption path. It is generally agreed that most of the impacted teeth are second molars that are deeply seated, and without symptoms. Traditionally, patients with failure of tooth eruption undergo surgical and/or orthodontic treatment. However, patients with PTH1R mutations have no beneficial effect of such a regime and PFE is therefore important to diagnose.

Case report and follow-up

A family with three PFE affected members in two generations, involving both the primary and permanent dentitions, and a novel mutation in the PTH1R gene are reported. Furthermore, the treatment of the eruption failure was documented in one of the cases.

Conclusion

In the present study, the proband initially only had a minor clinical problem, lack of eruption of the primary second left mandibular molar. However, over time several problems appeared in the permanent dentition. Clinical signs of PFE should lead one to look for similar dental problems in related family members and to molecular DNA testing. Confirmation of the diagnosis PFE in young children has the advantage that unnecessary treatment can be avoided, since early orthodontic intervention for these patients is futile. Once growth is complete, several multidisciplinary treatment strategies can partially solve the posterior open bite malocclusion that is characteristic of this disorder. Treatment should be planned in cooperation with specialists who are used to treating PFE patients.

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References

  • Bianchi SD, Roccuzzo M. Primary impaction of primary teeth: a review and report of three cases. J Clin Pediatr Dent. 1991;15:165–8.

    PubMed  Google Scholar 

  • Decker E, Stellzig-Eisenhauer A, Fiebig BS, et al. PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. Am J Hum Genet. 2008;83:781–6.

    Article  PubMed  PubMed Central  Google Scholar 

  • Frazier-Bowers SA, Koehler KE, Ackerman JL, Proffit WR. Primary failure of eruption: further characterization of a rare eruption disorder. Am J Orthod Dentofac Orthop. 2007;578:1–11.

    Google Scholar 

  • Frazier-Bowers SA, Simmons D, Wright JT, Proffit WR, Ackerman JL. Primary failure of eruption and PTH1R: the importance of a genetic diagnosis for orthodontic treatment planning. Am J Orthod Dentofac Orthop. 2010;137:160–7.

    Article  Google Scholar 

  • Frazier-Bowers SA, Hendricks HM, Wright JT, et al. Novel mutations in PTH1R associated with primary failure of eruption and osteoarthritis. J Dent Res. 2014;93(2):134–9.

    Article  PubMed  PubMed Central  Google Scholar 

  • Järvinen SH. Unerupted second primary molars: report of two cases. J Dent Child. 1994;61:397–400.

    Google Scholar 

  • Kjær I, Fink-Jensen M, Andreasen JO. Classification and sequelae of arrested eruption of primary molars. Int J Paediatr Dent. 2008;18:11–7.

    Article  PubMed  Google Scholar 

  • Matsuyama J, Kinoshita-Kawano S, Hayashi-Sakai S, Mitomi T, Sano-Asahito T. Severe impaction of the primary mandibular second molar accompanied by displacement of the permanent second premolar. Case Rep Dent. 2015;2015:582462.

    PubMed  PubMed Central  Google Scholar 

  • Otsuka Y, Mitomi T, Tomizawa M, Noda T. A review of clinical features in 13 cases of impacted primary teeth. Int J Paediatr Dent. 2001;11:57–63.

    Article  PubMed  Google Scholar 

  • Pilz P, Meyer-Marcotty P, Eigenthaler M, et al. Differential diagnosis of primary failure of eruption (PFE) with and without evidence of pathogenic mutations in the PTHR1 gene. J Orofac Orthop. 2014;75:226–39.

    Article  PubMed  Google Scholar 

  • Proffit WR, Vig KW. Primary failure of eruption: a possible cause of posterior open bite. Am J Orthod. 1981;80:173–90.

    Article  PubMed  Google Scholar 

  • Rasmussen P, Kotsaki A. Inherited primary failure of eruption in the primary dentition-report of 5 cases. ASDC J Dent Child. 1997;64:43–7.

    PubMed  Google Scholar 

  • Risom L, Christoffersen L, Daugaard-Jensen J, et al. Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption. PLoS ONE. 2013;8(9):e74601.

    Article  PubMed  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, Nørre Allé 20, 2200, Copenhagen N, Denmark

    S. Aziz & N. V. Hermann

  2. Molecular Genetics Laboratory, Department of Clinical Genetics, University Hospital Copenhagen, 4062, Blegdamsvej 9, 2100, Copenhagen Ø, Denmark

    M. Dunø

  3. Juliane Marie Center, University Hospital Copenhagen, Blegdamsvej 9, 2100, Copenhagen Ø, Denmark

    L. Risom

  4. Resource Center for Rare Oral Disease, University Hospital Copenhagen, 5811, Blegdamsvej 9, 2100, Copenhagen Ø, Denmark

    J. Daugaard-Jensen

  5. Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, Nørre Allé 20, 2200, Copenhagen N, Denmark

    S. Kreiborg

Authors
  1. S. Aziz
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  2. N. V. Hermann
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  3. M. Dunø
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  4. L. Risom
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  5. J. Daugaard-Jensen
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  6. S. Kreiborg
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Corresponding author

Correspondence to N. V. Hermann.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Aziz, S., Hermann, N.V., Dunø, M. et al. Primary failure of eruption of teeth in two siblings with a novel mutation in the PTH1R gene. Eur Arch Paediatr Dent 20, 295–300 (2019). https://doi.org/10.1007/s40368-018-00410-8

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  • DOI: https://doi.org/10.1007/s40368-018-00410-8

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