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Dentinogenesis imperfecta type II in Swedish children and adolescents

BACKGROUND: Dentinogenesis imperfecta (DGI) is a heritable disorder of dentin. Genetic analyses have found two subgroups in this disorder: DGI type I, a syndromic form associated with osteogenesis imperfecta (OI), and DGI type II, a non-syndromic form. The differential diagnosis between types I and...

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Autores principales: Andersson, K., Malmgren, B., Åström, E., Dahllöf, G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6106925/
https://www.ncbi.nlm.nih.gov/pubmed/30134932
http://dx.doi.org/10.1186/s13023-018-0887-2
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author Andersson, K.
Malmgren, B.
Åström, E.
Dahllöf, G.
author_facet Andersson, K.
Malmgren, B.
Åström, E.
Dahllöf, G.
author_sort Andersson, K.
collection PubMed
description BACKGROUND: Dentinogenesis imperfecta (DGI) is a heritable disorder of dentin. Genetic analyses have found two subgroups in this disorder: DGI type I, a syndromic form associated with osteogenesis imperfecta (OI), and DGI type II, a non-syndromic form. The differential diagnosis between types I and II is often challenging. Thus, the present cross-sectional study had two aims: to (i) investigate the prevalence and incidence of DGI type II among Swedish children and adolescents and (ii) search out undiagnosed cases of DGI type I by documenting the prevalence of clinical symptoms of OI in these individuals. We invited all public and private specialist pediatric dental clinics (n = 47) in 21 counties of Sweden to participate in the study. We then continuously followed up all reported cases during 2014−2017 in order to identify all children and adolescents presenting with DGI type II. Using a structured questionnaire and an examination protocol, pediatric dentists interviewed and examined patients regarding medical aspects such as bruising, prolonged bleeding, spraining, fractures, hearing impairment, and family history of osteoporosis and OI. Joint hypermobility and sclerae were assessed. The clinical oral examination, which included a radiographic examination when indicated, emphasized dental variables associated with OI. RESULTS: The prevalence of DGI type II was estimated to be 0.0022% (95% CI, 0.0016–0.0029%) or 1 in 45,455 individuals. Dental agenesis occurred in 9% of our group. Other findings included tooth retention (17%), pulpal obliteration (100%), and generalized joint hypermobility (30%). Clinical and radiographic findings raised a suspicion of undiagnosed OI in one individual, a 2-year-old boy; he was later diagnosed with OI type IV. CONCLUSIONS: These results show a significantly lower prevalence of DGI type II than previously reported and point to the importance of excluding OI in children with DGI. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13023-018-0887-2) contains supplementary material, which is available to authorized users.
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spelling pubmed-61069252018-08-29 Dentinogenesis imperfecta type II in Swedish children and adolescents Andersson, K. Malmgren, B. Åström, E. Dahllöf, G. Orphanet J Rare Dis Research BACKGROUND: Dentinogenesis imperfecta (DGI) is a heritable disorder of dentin. Genetic analyses have found two subgroups in this disorder: DGI type I, a syndromic form associated with osteogenesis imperfecta (OI), and DGI type II, a non-syndromic form. The differential diagnosis between types I and II is often challenging. Thus, the present cross-sectional study had two aims: to (i) investigate the prevalence and incidence of DGI type II among Swedish children and adolescents and (ii) search out undiagnosed cases of DGI type I by documenting the prevalence of clinical symptoms of OI in these individuals. We invited all public and private specialist pediatric dental clinics (n = 47) in 21 counties of Sweden to participate in the study. We then continuously followed up all reported cases during 2014−2017 in order to identify all children and adolescents presenting with DGI type II. Using a structured questionnaire and an examination protocol, pediatric dentists interviewed and examined patients regarding medical aspects such as bruising, prolonged bleeding, spraining, fractures, hearing impairment, and family history of osteoporosis and OI. Joint hypermobility and sclerae were assessed. The clinical oral examination, which included a radiographic examination when indicated, emphasized dental variables associated with OI. RESULTS: The prevalence of DGI type II was estimated to be 0.0022% (95% CI, 0.0016–0.0029%) or 1 in 45,455 individuals. Dental agenesis occurred in 9% of our group. Other findings included tooth retention (17%), pulpal obliteration (100%), and generalized joint hypermobility (30%). Clinical and radiographic findings raised a suspicion of undiagnosed OI in one individual, a 2-year-old boy; he was later diagnosed with OI type IV. CONCLUSIONS: These results show a significantly lower prevalence of DGI type II than previously reported and point to the importance of excluding OI in children with DGI. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13023-018-0887-2) contains supplementary material, which is available to authorized users. BioMed Central 2018-08-22 /pmc/articles/PMC6106925/ /pubmed/30134932 http://dx.doi.org/10.1186/s13023-018-0887-2 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research
Andersson, K.
Malmgren, B.
Åström, E.
Dahllöf, G.
Dentinogenesis imperfecta type II in Swedish children and adolescents
title Dentinogenesis imperfecta type II in Swedish children and adolescents
title_full Dentinogenesis imperfecta type II in Swedish children and adolescents
title_fullStr Dentinogenesis imperfecta type II in Swedish children and adolescents
title_full_unstemmed Dentinogenesis imperfecta type II in Swedish children and adolescents
title_short Dentinogenesis imperfecta type II in Swedish children and adolescents
title_sort dentinogenesis imperfecta type ii in swedish children and adolescents
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6106925/
https://www.ncbi.nlm.nih.gov/pubmed/30134932
http://dx.doi.org/10.1186/s13023-018-0887-2
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