Analysis of the cephalometric pattern of Brazilian achondroplastic adult subjects

Cardoso, Rita A.; Ajzen, Sérgio Aron; Andriolo, Aline Ribeiro; Oliveira, Jefferson Xavier de; Andriolo, Adagmar

doi:10.1590/s2176-94512012000600023

Cited by 7 publications

(21 citation statements)

References 23 publications

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“…The presence of mandible abnormalities in these diseases has rarely been studied. A report showed mandibular clefting in a case of TD I (28), two cephalometric studies in adult ACH patients reported opposite results concerning the size of the mandible [normal for Cohen et al (26) or decreased for Cardoso et al (27)], whereas another study showed that MS patients had shorter mandibular body length than controls (29). Several mouse lines carrying Fgfr3 activating mutations have been generated but a very few comprehensive analysis of the mandible are available.…”

Section: Discussionmentioning

confidence: 99%

“…Analysis of lateral cephalogram from adult ACH patients has shown a prognathic mandible (i.e. anteriorly displaced) (26,27). It has also been reported that in humans, other skeletal dysplasia caused by activating mutations of FGFR3 can result in mandibular dysmorphogenesis as seen in thanatophoric dysplasia (TD) (28), and Muenke syndrome (MS) (29).…”

Section: Introductionmentioning

confidence: 99%

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Meckel’s and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible

et al. 2016

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Activating FGFR3 mutations in human result in achondroplasia (ACH), the most frequent form of dwarfism, where cartilages are severely disturbed causing long bones, cranial base and vertebrae defects. Because mandibular development and growth rely on cartilages that guide or directly participate to the ossification process, we investigated the impact of FGFR3 mutations on mandibular shape, size and position. By using CT scan imaging of ACH children and by analyzing Fgfr3Y367C/+ mice, a model of ACH, we show that FGFR3 gain-of-function mutations lead to structural anomalies of primary (Meckel’s) and secondary (condylar) cartilages of the mandible, resulting in mandibular hypoplasia and dysmorphogenesis. These defects are likely related to a defective chondrocyte proliferation and differentiation and pan-FGFR tyrosine kinase inhibitor NVP-BGJ398 corrects Meckel’s and condylar cartilages defects ex vivo. Moreover, we show that low dose of NVP-BGJ398 improves in vivo condyle growth and corrects dysmorphologies in Fgfr3Y367C/+ mice, suggesting that postnatal treatment with NVP-BGJ398 mice might offer a new therapeutic strategy to improve mandible anomalies in ACH and others FGFR3-related disorders.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Meckel’s and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible

et al. 2016

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“…Because of hypoplasia of midfacial structures [305] malocclusion is common. In addition to maxillary hypoplasia, there is relative overgrowth of the mandible; it is uncertain whether mandibular growth is itself normal [305] or diminished [306] but less so than is the diminishment of maxillary growth. Given these features, one might expect an extensive literature concerning management of malocclusions in those with achondroplasia; it is surprising how little literature concerning this is available [307–312].…”

Section: Natural History and Managementmentioning

confidence: 99%

Achondroplasia: a comprehensive clinical review

Pauli¹

2019

Orphanet J Rare Dis

323

374

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Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in which these are best diagnosed and addressed, and whether preventive strategies can ameliorate the problems that can compromise the health and well being of affected individuals. This review provides both an updated discussion of the care needs of those with achondroplasia and an exploration of the limits of evidence that is available regarding care recommendations, controversies that are currently present, and the many areas of ignorance that remain.

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“…Interdependencies between cranial structures and odontometric parameters using cephalometric analysis by Downs, Steinner, Bjork, Ricketts and McNamara were found when working with the Brazilian population sample [7,18].…”

Section: Discussionmentioning

confidence: 95%

Correlations of basal cranial structures characteristics determined by Bjork and Jarabak methods with teleradiographic parameters of the upper and lower jaws and tooth location in young men and young women with orthognathic occlusion

Vakhovskyi

Shinkaruk-Dykovytska

Pogorila

et al. 2020

Biomed. and Biosoc. Anthrop.

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The widespread use of methods of cephalometric analysis in practical orthodontics requires the adaptation of normative indicators for members of the local ethnic group. It is also important to study the relationships between cranial and odontometric parameters to understand the effects of these components on each other. The aim of the study was to establish the peculiarities of correlations between the characteristics of basal cranial structures determined by Bjork and Jarabak methods with teleradiographic parameters of the upper and lower jaws and the location of teeth in Ukrainian young men and young women with orthognathic occlusion. Teleradiography was performed in the mode of cephalometric examination of 49 young men (aged 17 to 21 years) and 76 young women (aged 16 to 20 years) who had a physiological bite as close as possible to orthognathic. Cephalometric analysis according to modifications of Jarabak J. R. – Roth-Jarabak and Bjork A. – CFT-Bjork methods, performed using OnyxCeph³™ software, 3DPro version, Image Instruments GmbH, Germany (software license № URSQ-1799). All indicators were divided into three groups according to Dmitriev M. O. (2017): the first group included metric characteristics of the skull, which are used as basic indicators in the methods of cephalometric analysis; to the second group – dental-maxillary in which the skeleton has already been formed and which surgical methods can change the length, width, angles and positions of the upper and lower jaws; to the third group – indicators that actually characterize the position of each individual tooth relative to each other, cranial structures and the profile of the soft tissues of the face. Correlation assessment was performed in the license package "Statistica 6.0" using the non-parametric Spearman method. As a result of the conducted researches in Ukrainian young men and young women with orthognathic occlusion the peculiarities of multiple correlations of characteristics of basal cranial structures determined by CFT-Bjork and Roth-Jarabak methods with teleradiographic parameters of upper and lower jaws and tooth location were established. Both the CFT-Bjork method and the Roth-Jarabak method have more reliable correlations in both young men and young women between the first and second groups (23.3 % for young men and 50.0 % for young women for CFT-Bjork and 48.4 % for young men and 41.1% for young women according to Roth-Jarabak) than between the indicators of the first and third groups (respectively 12.8 % for young men and 7.7 % for young women for CFT-Bjork and 22.5 % for young men and 12.5 % for young women for Roth-Jarabak). The expressed manifestations of sexual dimorphism of the received correlations between the indicators defined by CFT-Bjork and Roth-Jarabak methods both on quantity and force, and in some cases on a direction of correlations are established.

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Analysis of the cephalometric pattern of Brazilian achondroplastic adult subjects

Cited by 7 publications

References 23 publications

Meckel’s and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible

Meckel’s and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible

Achondroplasia: a comprehensive clinical review

Correlations of basal cranial structures characteristics determined by Bjork and Jarabak methods with teleradiographic parameters of the upper and lower jaws and tooth location in young men and young women with orthognathic occlusion

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