Genetic Disorders and Bone Affecting the Craniofacial Skeleton

Chacon, Guillermo E.; Ugalde, Carlos M.; Jabero, Marvin F.

doi:10.1016/j.coms.2007.08.001

Cited by 11 publications

(8 citation statements)

References 38 publications

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“…Gardner's syndrome (OMIM # 175100 ) is part of the familial adenomatous polyposis spectrum of genetic mutations caused by heterozygous mutations of the adenomatous polyposis coli (APC) tumor suppressor gene on chromosome 5q22.2 It is inherited in an autosomal dominant fashion with variable penetrance ( Chacon et al, 2007 ; Oliveira et al, 2016 ). Craniofacial involvement includes multiple osteomas of the skull and jaws that give a “cotton-wool” appearance described by others as radiopaque lesions without a translucent halo and multiple odontomas of the jaws.…”

Section: Syndromic Lesions Associated With Craniofacial Complexmentioning

confidence: 99%

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Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives

Akintoye,

Adisa,

Okwuosa

et al. 2024

Bone Reports

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Section: Syndromic Lesions Associated With Craniofacial Complexmentioning

confidence: 99%

“…Dental anomalies include supernumerary, impacted and congenitally missing teeth, hypercementosis and unusually long and pointed roots of posterior teeth. Osteomas and odontomas are generally observed in the post-pubertal period ( Chacon et al, 2007 ; Oliveira et al, 2016 ).…”

Section: Syndromic Lesions Associated With Craniofacial Complexmentioning

confidence: 99%

Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives

Akintoye,

Adisa,

Okwuosa

et al. 2024

Bone Reports

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“…This is because once the eruption pathway has formed, even a metal crown lacking a developmental “propulsive force” can erupt on schedule [ 6 ]. The histological examination and imaging of alveolar bone has previously showed increased bone density in CCD, resulting in mechanical obstruction overlying the tooth crown [ 7 , 8 , 9 ]. Moreover, animal models of osteoclast dysfunction also presented with eruption defects [ 10 , 11 , 12 ].…”

Section: Introductionmentioning

confidence: 99%

A Novel lncRNA Mediates the Delayed Tooth Eruption of Cleidocranial Dysplasia

Xin

Liu

et al. 2022

Cells

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Delayed eruption of permanent teeth is a common symptom of cleidocranial dysplasia (CCD). Previous studies have focused on the anomaly of osteogenesis resulting from mutations in the Runt-related transcription factor-2 gene (RUNX2). However, deficiencies in osteoclastogenesis and bone resorption, and the epigenetic regulation mediated by long non-coding (lnc)RNAs in CCD remain to be elucidated. Here, a novel osteoclast-specific lncRNA (OC-lncRNA) was identified during the osteoclast differentiation of RAW 264.7 cells transfected with a RUNX2 mutation expression cassette. We further confirmed that OC-lncRNA positively regulated osteoclastogenesis and bone resorption. The OC-lncRNA promoted the expression of CXC chemokine receptor type 3 (CXCR3) by competitively binding to microRNA (miR)-221-5p. The CXCR3–CXC-motif chemokine ligand 10 (CXCL10) interaction and nuclear factor-κB constituted a positive feedback that positively regulated osteoclastogenesis and bone resorption. These results demonstrate that OC-lncRNA-mediated osteoclast dysfunction via the OC-lncRNA–miR-221-5p–CXCR3 axis, which is involved in the process of delayed tooth eruption of CCD.

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“…Se caracteriza por ser una lesión expansiva, que afecta los cuatro cuadrantes de los maxilares, con predilección de la mandíbula ( [8][9][10] ). Está incluido entre los siete trastornos que afectan la fisonomía del esqueleto craneofacial, acompañado por la displasia fibrosa, la osteogénesis imperfecta, la osteopetrosis, la displasia cleidocraneal, el querubismo y el síndrome de Gardner ( 11 ). La remoción quirúrgica completa de la lesión es el tratamiento más eficaz para evitar futuras recidivas; sin embargo, la rápida proliferación y reaparición de la lesión hace más difícil su eliminación total ( 2,8,11 ).…”

Section: Introductionunclassified

Características clínicas e imagenológicas del cementoma gigantiforme familiar. Una revisión de la literatura

Rodríguez-Cuentas

2021

Rev Cient Odontol (Lima)

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El cementoma gigantiforme familiar es una lesión fibro-ósea benigna poco común, que sigue un patrón de herencia autosómico dominante. Se presenta durante la infancia y se limita a los huesos de la cara, especialmente la mandíbula. Presenta crecimiento rápido e indoloro, y se expande considerablemente con el paso de los años. Está considerada entre los siete trastornos que afectan la fisonomía del esqueleto craneofacial. Radiográficamente, se produce en tres etapas de maduración, al igual que las displasias óseas: radiolúcida, mixta y radiopaca, y se describe como una masa lobular mixta, bien delimitada, que puede aparecer en ambos maxilares y provocar la expansión de corticales óseas vestibular y palatina/lingual, el desplazamiento y la retención de piezas dentarias. Este artículo tuvo el objetivo de realizar una revisión de la literatura más relevante para identificar las características clínicas, radiográficas e histopatológicas del cementoma gigantiforme familiar en los maxilares, además de mostrar las herramientas imagenológicas útiles para el diagnóstico y seguimiento de la lesión.

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Genetic Disorders and Bone Affecting the Craniofacial Skeleton

Cited by 11 publications

References 38 publications

Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives

Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives

A Novel lncRNA Mediates the Delayed Tooth Eruption of Cleidocranial Dysplasia

Características clínicas e imagenológicas del cementoma gigantiforme familiar. Una revisión de la literatura

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