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. 2024 Nov;115(5):461-479.
doi: 10.1007/s00223-024-01293-2. Epub 2024 Sep 18.

Dental Abnormalities in Osteogenesis Imperfecta: A Systematic Review

Laura Ventura #  1   2   3   4 , Sara J E Verdonk #  3   4   5 , Lidiia Zhytnik  1   2   3   4 , Angela Ridwan-Pramana  6   7 , Marjolijn Gilijamse  3   4   6 , Willem H Schreuder  4   6   8 , Kirsten A van Gelderen-Ziesemer  9 , Ton Schoenmaker #  3   4   10 , Dimitra Micha #  1   2   3   4 , Elisabeth M W Eekhoff #  11   12   13   14
Affiliations

Dental Abnormalities in Osteogenesis Imperfecta: A Systematic Review

Laura Ventura et al. Calcif Tissue Int. 2024 Nov.

Abstract

Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by fragile bones and skeletal deformities. Individuals with OI may have dental abnormalities such as dentinogenesis imperfecta (DI) type I, malocclusions, and unerupted or missing teeth. This review comprehensively examines these dental abnormalities to assess their prevalence among the OI population and explore potential differences across different clinical types of OI and pathogenic variants. In accordance with the PRISMA guidelines, a systematic literature search in PubMed, Embase, and Web of Science was conducted that included articles up to June 2024. Out of 672 articles screened, 34 were included. The included studies confirmed that dental abnormalities are prevalent in OI, with DI prevalence ranging from approximately 20 to 48%. Those with a more severe skeletal phenotype (OI type III/IV) exhibited more dental abnormalities than those with a milder skeletal phenotype (OI type I). Notably, OI type V individuals generally do not have DI, although a few isolated cases have been reported. The prevalence of occlusion types varied: Class I occlusion ranged from 14.8 to 50% and Class II malocclusion ranged from 0 to 37.5%, while Class III malocclusion from 4.1 to 84%. This differs from the general population, where Class III malocclusion is typically the least common. Open bites, cross-bites, and unerupted and missing teeth are also commonly reported, particularly in OI types III and IV. This review emphasizes the need for comprehensive dental examinations in OI due to the high prevalence of dental abnormalities. Additionally, the review draws attention to the lack of clear guidelines for diagnosing DI.

Keywords: Collagen type I; Dental abnormalities; Dentinogenesis imperfecta; Osteogenesis imperfecta.

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Conflict of interest statement

L. Ventura, S.J.E. Verdonk, L. Zhytnik, A. Ridwan-Pramana, M. Gilijamse, W.H. Schreuder, K.A. van Gelderen-Ziesemer, T. Schoenmaker, D. Micha, and E.M.W. Eekhoff declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1
Cross-section of a molar showing the structures of the tooth. Created with Biorender.com and edited with Adobe Photoshop (Beta) version 25.11
Fig. 2
Fig. 2
Flowchart of the search and selection procedure of studies
See this image and copyright information in PMC

References

    1. van Dijk FS, Sillence DO (2014) Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A 164A(6):1470–1481. 10.1002/ajmg.a.36545 - PMC - PubMed
    1. Claeys L, Storoni S, Eekhoff M, Elting M, Wisse L, Pals G, Bravenboer N, Maugeri A, Micha D (2021) Collagen transport and related pathways in osteogenesis imperfecta. Hum Genet 140(8):1121–1141. 10.1007/s00439-021-02302-2 - PMC - PubMed
    1. Elfituri AA, De Nova MJ, Najirad M (2024) The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study. Orphanet J Rare Dis 19(1):108. 10.1186/s13023-024-03096-y - PMC - PubMed
    1. Patel RM, Nagamani SC, Cuthbertson D, Campeau PM, Krischer JP, Shapiro JR, Steiner RD, Smith PA, Bober MB, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee BH, Hart T, Sutton VR (2015) A cross-sectional multicenter study of osteogenesis imperfecta in North America—results from the linked clinical research centers. Clin Genet 87(2):133–140. 10.1111/cge.12409 - PMC - PubMed
    1. Malmgren B, Norgren S (2002) Dental aberrations in children and adolescents with osteogenesis imperfecta. Acta Odontol Scand 60(2):65–71. 10.1080/000163502753509446 - PubMed

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