Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes

Malmgren, B.; Andersson, Kristofer; Lindahl, Karin; Kindmark, Andreas; Grigelioniené, Giedré; Zachariadis, Vasilios; Dahllöf, Göran; Albrecht, Eva

doi:10.1111/odi.12568

Cited by 41 publications

(49 citation statements)

References 43 publications

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“…We previously reported a high prevalence of hypodontia (11%) and oligodontia (6%) in children and adolescents with OI [17]. In the present cohort, we observed a hypodontia prevalence of 9%, which is only slightly higher than reported prevalences of 6−8% for the Nordic population in general [18–20].…”

Section: Discussioncontrasting

confidence: 69%

Dentinogenesis imperfecta type II in Swedish children and adolescents

Andersson

Malmgren

Albrecht

et al. 2018

Orphanet J Rare Dis

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BackgroundDentinogenesis 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.ResultsThe 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.ConclusionsThese 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 materialThe online version of this article (10.1186/s13023-018-0887-2) contains supplementary material, which is available to authorized users.

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Section: Discussioncontrasting

confidence: 69%

Dentinogenesis imperfecta type II in Swedish children and adolescents

Andersson

Malmgren

Albrecht

et al. 2018

Orphanet J Rare Dis

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“…Craniofacial and dentoalveolar abnormalities are present in mild, moderate, and severe types of OI. Cephalometric studies have revealed that dentoalveolar structures and the condylar processes are often vertically underdeveloped in OI types III and IV . Clinically, the hypoplastic maxilla and reduced vertical and transverse dimensions result in a malocclusion, such as bilateral open bite or cross bite, and counterclockwise (overclosing) rotation of the mandible .…”

Section: Introductionmentioning

confidence: 99%

“…Cephalometric studies have revealed that dentoalveolar structures and the condylar processes are often vertically underdeveloped in OI types III and IV. (6)(7)(8)(9) Clinically, the hypoplastic maxilla and reduced vertical and transverse dimensions result in a malocclusion, such as bilateral open bite or cross bite, and counterclockwise (overclosing) rotation of the mandible. (9) The facial appearance of moderate and severe OI is often characterized by frontal bossing, triangular face shape, (3) and macrocephaly.…”

Section: Introductionmentioning

confidence: 99%

Cone‐Beam Computed Tomography of Osteogenesis Imperfecta Types III and IV: Three‐Dimensional Evaluation of Craniofacial Features and Upper Airways

et al. 2019

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This cross‐sectional study investigated the natural history of craniofacial deformities in osteogenesis imperfecta (OI) and determined the impact of three‐dimensional (3D) analysis on diagnosis and treatment planning in orthodontics and orthognathic surgery in comparison to conventional two‐dimensional (2D) cephalometric examination. 3D images of the craniofacial complex were acquired during 1 calendar year using cone‐beam computed tomography (CBCT) from a cohort of 41 individuals (aged 11 to 35 years; 28 females) with OI type III ( n = 13) or IV ( n = 28). 3D evaluation of the craniocervical junction and upper airways was conducted using InVivo TM . 2D lateral cephalogram was constructed, traced, and examined using the University of Western Ontario analysis (Dolphin TM ). Quantitative and qualitative parameters were compared between OI type III and type IV groups (unpaired t test) and the unaffected population ( Z ‐score). 3D evaluation revealed a high prevalence of craniocervical abnormalities, craniofacial asymmetries, and nasal septum deviation in both OI groups. Mean airway dimensions were comparable to the non‐affected population norms, except for 5 individuals who had insufficient airway dimensions. In 2D, the maxilla was retrognathic and hypoplastic, and the mandibular position was convergent with respect to the face, resulting in mandibular prognathism and face height reduction. The 2D trends were more pronounced in OI type III, whereas the 3D craniocervical and airway abnormalities were common in both types. This study illustrates the prevalence of craniofacial and airway anomalies in OI that occur along with facial deformities are not associated with postcranial phenotype and OI type, are apparent only in 3D evaluation, and are likely to influence treatment strategy. For OI patients, a team effort involving a dentist, orthodontist, neurologist, and ear‐nose‐throat (ENT) practitioner is recommended for successful management of craniofacial deformities. © 2018 The Authors JBMR Plus published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research.

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“…We have previously reported a high prevalence of hypodontia and oligodontia in adolescents with OI [17]. Apically extended pulp chambers (taurodontism), primary retained permanent second molars, (failure of eruption before emergence, without a physical barrier in the eruption path) [12, 18] and aberrant craniofacial development with a retrognathic maxilla often occur in patients with OI [19, 20].…”

Section: Introductionmentioning

confidence: 99%

Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta – A retrospective cohort study

et al. 2017

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Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, caused mainly by mutations in the collagen I genes (COL1A1 and COL1A2). Dentinogenesis imperfecta (DGI) and other dental aberrations are common features of OI. We investigated the association between collagen I mutations and DGI, taurodontism, and retention of permanent second molars in a retrospective cohort of 152 unrelated children and adolescents with OI. The clinical examination included radiographic evaluations. Teeth from 81 individuals were available for histopathological evaluation. COL1A1/2 mutations were found in 104 individuals by nucleotide sequencing. DGI was diagnosed clinically and radiographically in 29% of the individuals (44/152) and through isolated histological findings in another 19% (29/152). In the individuals with a COL1A1 mutation, 70% (7/10) of those with a glycine substitution located C-terminal of p.Gly305 exhibited DGI in both dentitions while no individual (0/7) with a mutation N-terminal of this point exhibited DGI in either dentition (p = 0.01). In the individuals with a COL1A2 mutation, 80% (8/10) of those with a glycine substitution located C terminal of p.Gly211 exhibited DGI in both dentitions while no individual (0/5) with a mutation N-terminal of this point (p = 0.007) exhibited DGI in either dentition. DGI was restricted to the deciduous dentition in 20 individuals. Seventeen had missense mutations where glycine to serine was the most prevalent substitution (53%). Taurodontism occurred in 18% and retention of permanent second molars in 31% of the adolescents. Dental aberrations are strongly associated with qualitatively changed collagen I. The varying expressivity of DGI is related to the location of the collagen I mutation. Genotype information may be helpful in identifying individuals with OI who have an increased risk of dental aberrations.

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Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes

Abstract: The prevalence of tooth agenesis is high (17%) in individuals with OI, and OI caused by a qualitative collagen I mutation is associated with oligodontia.

Cited by 41 publications

References 43 publications

Dentinogenesis imperfecta type II in Swedish children and adolescents

Dentinogenesis imperfecta type II in Swedish children and adolescents

Cone‐Beam Computed Tomography of Osteogenesis Imperfecta Types III and IV: Three‐Dimensional Evaluation of Craniofacial Features and Upper Airways

Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta – A retrospective cohort study

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