Cleidocranial dysplasia: oral features and genetic analysis of 11 patients

Bufalino, Andréia; Paranaíba, Lívia Máris Ribeiro; Gouvêa, Adriele Ferreira; Gueiros, Luiz Alcino Monteiro; Martelli‐Júnior, Hercílio; J, J; Lopes, M. A.; Graner, Edgard; Almeida, Orlando José de; Vargas, Pablo Agustı́n; Coletta, Ricardo D.

doi:10.1111/j.1601-0825.2011.01862.x

Cited by 58 publications

(59 citation statements)

References 25 publications

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“…It is intriguing that the recent sequencing of the Neanderthal genome provides evidence for positive selection in the modern human variant of one of these key genes, RUNX2, which is known to affect MS fusion (26). RUNX2-related disorders, such as cleidocranial dysplasia, result in delayed MS fusion and pathologies, such as extreme bulging of the forehead and hypertelorism (27). Premature closure of the metopic suture (metopic synostosis), on the other hand, typically results in trigonocephaly: that is, a narrow forehead with an external metopic ridge (keel) extending from glabella to the midforehead, relatively close-set orbits and no lateral browridge (28,29).…”

Section: Discussionmentioning

confidence: 99%

Metopic suture of Taung ( Australopithecus africanus ) and its implications for hominin brain evolution

Falk

Zollikofer

Morimoto

et al. 2012

Proc. Natl. Acad. Sci. U.S.A.

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The type specimen for Australopithecus africanus (Taung) includes a natural endocast that reproduces most of the external morphology of the right cerebral hemisphere and a fragment of fossilized face that articulates with the endocast. Despite the fact that Taung died between 3 and 4 y of age, the endocast reproduces a small triangular-shaped remnant of the anterior fontanelle, from which a clear metopic suture (MS) courses rostrally along the midline [Hrdlicka A (1925) Am J Phys Anthropol 8:379-392]. Here we describe and interpret this feature of Taung in light of comparative fossil and actualistic data on the timing of MS closure. In great apes, the MS normally fuses shortly after birth, such that unfused MS similar to Taung's are rare. In humans, however, MS fuses well after birth, and partially or unfused MS are frequent. In gracile fossil adult hominins that lived between ∼3.0 and 1.5 million y ago, MS are also relatively frequent, indicating that the modern human-like pattern of late MS fusion may have become adaptive during early hominin evolution. Selective pressures favoring delayed fusion might have resulted from three aspects of perinatal ontogeny: (i) the difficulty of giving birth to large-headed neonates through birth canals that were reconfigured for bipedalism (the "obstetric dilemma"), (ii) high early postnatal brain growth rates, and (iii) reorganization and expansion of the frontal neocortex. Overall, our data indicate that hominin brain evolution occurred within a complex network of fetopelvic constraints, which required modification of frontal neurocranial ossification patterns.brain size evolution | virtual endocast | fossil hominins | frontal cortex | obstetrics

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Section: Discussionmentioning

confidence: 99%

Metopic suture of Taung ( Australopithecus africanus ) and its implications for hominin brain evolution

Falk

Zollikofer

Morimoto

et al. 2012

Proc. Natl. Acad. Sci. U.S.A.

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“…Cleidocranial dysplasia (CCD), which is caused by mutation of Runx2, is a hereditary congenital disorder characterized by the abnormalities of bone development such as clavicle dysplasia, unclosed fontanels, and retained primary teeth due to no root resorption [11][12][13][14][15][16]. Previous studies reported that Runx2, which is the master osteogenic transgenic factor regulating osteogenesis metabolism, also induces differentiation of osteoclast through regulation of RANKL and OPG [17][18][19][20][21].…”

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confidence: 99%

Periodontal Ligament Stem Cells Modulate Root Resorption of Human Primary Teeth via Runx2 Regulating RANKL/OPG System

Wang

Dong

et al. 2014

Stem Cells and Development

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Physiological primary teeth exfoliation is a normal phenomenon during teeth development. However, retained primary teeth can often be observed in the patients with cleidocranial dysplasia (CCD) caused by mutation of Runx2. The potential regulative mechanism is still unknown. In the present study, periodontal ligament stem cells (PDLSCs) were derived from different resorbed stages of primary teeth and permanent teeth from normal patients and primary teeth from CCD patient. The proliferative, osteogenic and osteoclast-inductive capacities of PDLSCs from each group were detected. We demonstrated here that the proliferative ability of PDLSCs was reduced while the osteogenic and the osteoclast-inductive capacity of PDLSCs were enhanced during root resorption. The results also showed that PDLSCs from permanent teeth and CCD patient expressed low level of Runx2 and RANKL while high level of OPG. However, expression of Runx2 and RANKL were increased while expression of OPG was decreased in PDLSCs derived from resorbed teeth. Furthermore, Runx2 regulating the expression of RANKL and OPG and the osteoclast-inductive capacity of PDLSCs were confirmed by gain or loss of function assay. These data suggest that PDLSCs promote osteoclast differentiation via Runx2 upregulating RANKL and downregulating OPG, leading to enhanced root resorption that results in physiological exfoliation of primary teeth.

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“…La malformación de los huesos del cráneo puede provocar hipoacusia 8 , siendo esta una complicación frecuente y que debe buscarse de forma dirigida.…”

Section: Discussionunclassified

Caso clínico-radiológico para diagnóstico

et al. 2013

Rev. chil. pediatr.

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Cleidocranial dysplasia: oral features and genetic analysis of 11 patients

Cited by 58 publications

References 25 publications

Metopic suture of Taung ( Australopithecus africanus ) and its implications for hominin brain evolution

Metopic suture of Taung ( Australopithecus africanus ) and its implications for hominin brain evolution

Periodontal Ligament Stem Cells Modulate Root Resorption of Human Primary Teeth via Runx2 Regulating RANKL/OPG System

Caso clínico-radiológico para diagnóstico

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