A meta‐analysis of the prevalence of dental agenesis of permanent teeth

Polder, Bart J; Hof, M. A. Van't; Linden, F.P.G.M. van der; Kuijpers-Jagtman, Anne Marie

doi:10.1111/j.1600-0528.2004.00158.x

Cited by 813 publications

(1,015 citation statements)

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“…9,24 Moreover, the predisposition of 'second teeth' agenesis pattern -upper second incisors, upper and lower second premolars and upper and lower second molars -is present in most patients which is in accordance with the findings described by Polder et al in 2004. 1 Profile analysis was performed on both intra-and extra oral 2D photographs as well as facial 3D stereophotogrammetric images. Looking at the common 3D facial features we noticed that all affected individuals with severe TA in these four unrelated families show a dished-in maxillofacial appearance and a mildly retruded mandible, pointing to decreased jaw and alveolar bone growth.…”

Section: Discussionmentioning

confidence: 99%

“…Depending on the tooth type and number of teeth involved, the prevalence of TA ranges from 10 to 30% for TA of third molars to 0.2% for severe TA of six teeth or more (excluding the third molars). 1 An overall incidence of TA of permanent teeth excluding third molars of 2.6-11.3% was reported, depending on demographic and geographic profiles. 1 As tooth formation shares mechanisms with the development of other ectodermal appendages, TA often occurs as part of a variety of ectodermal dysplasia (ED) syndromes including Witkop syndrome, hypohydrotic ectodermal dysplasia, odonto-onycho-dermal dysplasia (OODD), Schöpf-Schulz-Passarge syndrome (SSPS) and others.…”

Section: Introductionmentioning

confidence: 99%

“…1 An overall incidence of TA of permanent teeth excluding third molars of 2.6-11.3% was reported, depending on demographic and geographic profiles. 1 As tooth formation shares mechanisms with the development of other ectodermal appendages, TA often occurs as part of a variety of ectodermal dysplasia (ED) syndromes including Witkop syndrome, hypohydrotic ectodermal dysplasia, odonto-onycho-dermal dysplasia (OODD), Schöpf-Schulz-Passarge syndrome (SSPS) and others. For these human TA syndromes, mutations have been identified, respectively, in MSX1, 2 EDA, EDAR, 3-5 EDARADD, 6 and WNT10A.…”

Section: Introductionmentioning

confidence: 99%

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Variability in dentofacial phenotypes in four families with WNT10A mutations

et al. 2014

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This article describes the inter-and intra-familial phenotypic variability in four families with WNT10A mutations. Clinical characteristics of the patients range from mild to severe isolated tooth agenesis, over mild symptoms of ectodermal dysplasia, to more severe syndromic forms like odonto-onycho-dermal dysplasia (OODD) and Schö pf-Schulz-Passarge syndrome (SSPS). Recurrent WNT10A mutations were identified in all affected family members and the associated symptoms are presented with emphasis on the dentofacial phenotypes obtained with inter alia three-dimensional facial stereophotogrammetry. A comprehensive overview of the literature regarding WNT10A mutations, associated conditions and developmental defects is presented. We conclude that OODD and SSPS should be considered as variable expressions of the same WNT10A genotype. In all affected individuals, a dished-in facial appearance was observed which might be helpful in the clinical setting as a clue to the underlying genetic etiology.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Variability in dentofacial phenotypes in four families with WNT10A mutations

et al. 2014

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“…2,3 In humans, multiple MSX1 mutations have been identified in families exhibiting Mendelian inheritance of an oligodontia phenotype (either non-syndromic or syndromic). [3][4][5][6][7][8][9][10][11][12][13][14] However, MSX1 also clearly affects the common human oral cleft phenotypes, as demonstrated through multiple genetic studies. [15][16][17][18][19][20] Yet, in all but a single case report, 5 MSX1 apparently functions as a complex disease determinant for oral clefting.…”

Section: Introductionmentioning

confidence: 99%

Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia

et al. 2011

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Multiple previous reports confirm that several missense alleles of MSX1 exhibit Mendelian inheritance of an oligodontia phenotype (agenesis of more than six secondary teeth besides third molars). However, the extent to which missense MSX1 alleles contribute to common, multifactorial disorders is less certain. It is still not yet clear whether multiple non-synonomous MSX1-coding variants identified among patients with oral clefting are merely neutral polymorphisms or whether any of these might represent real mutations with mild effects. The present work steps toward resolving these issues for at least one MSX1 allele: R151S, previously identified in a single Japanese proband with unilateral cleft lip and palate. Candidate gene sequencing within a patient cohort demonstrating mild tooth agenesis (loss of six or less secondary teeth besides third molars, hypodontia), secondarily identified this same MSX1 variant, functioning as a mildly deleterious, moderately penetrant allele. Four of five heterozygous R151S individuals from one Japanese family exhibited the hypodontia phenotype. The in vitro functional assays of the variant protein display partial repression activity with normal nuclear localization. These data establish that the MSX1-R151S allele is a low-frequency, mildly deleterious allele for familial hypodontia that alone is insufficient to cause oral facial clefting. Yet, as this work also establishes its hypomorphic nature, it suggests that it may in fact contribute to the likelihood of common birth disorder phenotypes, such as partial tooth agenesis and oral facial clefting. Nevertheless, the exact mechanism in which differential pleiotropy is manifested will need further and deeper clinical and functional analyses.

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“…1 The prevalence is higher in Europe and Australia than in North America, females are affected about 1.4 times more than males and bilateral absence is more common than the unilateral scenario. 2 The data on hypodontia suggests that it follows an autosomal dominant mode of inheritance with incomplete penetrance. 3 The maxillary lateral incisor is the third most frequent devel opmentally absent tooth after third molars and mandibular second premolars 2 and its absence can also occur in a number of conditions such as ectodermal dysplasia, cleft lip and palate, Down's Syndrome, Incontinentia pigmenti and following early irradiation of tooth germs.…”

Section: Introductionmentioning

confidence: 99%