A systematic review of the oral and craniofacial manifestations of cri du chat syndrome

Corcuera-Flores, José-Ramón; Casttellanos-Cosano, Lizett; Torrés-Lagares, Daniel; Serrera-Figallo, María-Ángeles; Rodríguez-Caballero, Ángela; Machuca-Portillo, Guillermo

doi:10.1002/ca.22654

Cited by 11 publications

(10 citation statements)

References 23 publications

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“…Moreover, Rodríquez-Caballero et al (31) observed some dental defects with a lower percentage, like dental opacities (33%), dental agenesis (9%), macrodontia (6%), supernumerary teeth (3%), root resorption (3%) and dental transposition (3%). A comprehensive review centered in oral and craniofacial manifestations of this syndrome has recently been published by the authors of this review (34). …”

Section: Resultsmentioning

confidence: 99%

Impact of rare diseases in oral health

et al. 2016

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BackgroundRare diseases (RD) are those that present a lower prevalence than 5 cases per 10.000 population. The main objective of this review was to study the effect on oral health in rare diseases, while the secondary objective of the study is theme upgrade.Material and MethodsComparative observational case-control studies were analysed and a systematic review was conducted in PubMed. Each rare disease listed on the statistical data record of the Health Portal of the Ministry of Equality, Health and Social Policies Board of Andalusia was associated with “oral health”. The variables studied included dental, oral mucosa and occlusion alterations, oral pathologies (caries, periodontal disease) and other alterations (mouth breathing, parafunctional habits, etc). A bias analysis of the variable caries was conducted.ResultsSix RD were selected through our inclusion and exclusion criteria (hypogammaglobulinemia, Rett syndrome, Marfan syndrome, Prader-Willi syndrome, cystic fibrosis and Cri du chat syndrome) in a total of 8 publications, of which four trials were classified as high risk of bias and one of them as medium risk. There were not trials with low risk of bias.ConclusionsThe main statistically significant differences found by Syndrome compared to a control group were in Hypogammaglobulinemia with a greater tendency to enamel hypoplasia and dry mouth. The Rett syndrome had, as well, a greater tendency to an anterior open bite, ogival palate, bruxism, mouth breathing and tongue thrusting. Prader-Willi syndrome had a tendency of dental erosion, and Cri du chat syndrome showed a higher association to Tannerella forsythia. Key words:Rare diseases, oral health.

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Section: Resultsmentioning

confidence: 99%

Impact of rare diseases in oral health

et al. 2016

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“…A large number of DS patients have lost teeth through aggressive periodontitis; could it be possible that some similar destructive process of the peri-implant support is taking place? Certain syndromes related to implant failure or with specific microbiological characteristics have been described [6,7,8,9].…”

Section: Introductionmentioning

confidence: 99%

Metallothioneins in Failure of Dental Implants and Periodontitis Down Syndrome Patients

Baus-Domínguez

Gómez-Díaz

Corcuera-Flores

et al. 2019

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Background: Sometimes dental implants seem to be the only therapeutic alternative for the oral rehabilitation of patients with Down syndrome, given that they usually lose all their teeth early due to suffering aggressive periodontitis and they do not usually have the skills required to wear removable prostheses. However, the evolution of dental implants in these patients shows very adverse results. It is possible that basal genetic alterations, or at least some characteristics of these, may underlie these clinical results. The metabolic pathway of metallothioneins, molecules with an important influence on bone metabolism, could be one of the said alterations. Aims: To determine whether the expression of metallothioneins (MTs) and their metabolic pathway may be identified and related to the periodontitis and lack of osseointegration of dental implants in Down syndrome patients. Materials and Methods: Retrospective study of cases and controls by comparing patients with Down syndrome, periodontal disease, and implant failure (four patients, test group) with patients with Down syndrome, without periodontal disease, and without implant failure after two years of following (seven patients, control group), by extracting peripheral blood at the time of the dental examination to extract RNA and its subsequent processing in relation to gene expression of the metabolic pathway of metallothioneins. Results: The results identified low expression in the group of patients with periodontal disease and implant failure of genes MT1E, MT1H, MT1X, MT1A, MT1B, MT1C, MT1L, MT2A, MT1M, and MT1G. Conclusions: The low MT1 and MT2 gene expression seems to be related to the onset of periodontal disease and implant rejection in Down syndrome patients, although more data are required to confirm whether this relationship is due to one of the two conditions, to both independently, or to the two jointly—this last option being indicated by our current study.

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“…Furthermore, in four out of the six DS evaluated patients, we found a reduction of the labial philtrum width. Alterations of this feature are often associated with syndromic condition [28,34]. In conclusion, despite the reduced patients number, this preliminary report allowed the identification of dysmorphic facial traits in the faces of adults affected by DS.…”

Section: Discussionmentioning

confidence: 78%

Three-Dimensional Stereophotogrammetric Analysis of Adults Affected by Dravet Syndrome

Pucciarelli¹,

Piazza²,

Ragona³

et al. 2017

Proceedings of 3DBODY.TECH 2017 - 8th International Conference and Exhibition On 3D Body Scanning and Processing Technologies,

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Dravet syndrome (DS) is a rare and severe form of epilepsy, associated with mutations of SCN1A gene, encoding for the sodium channel voltage-dependent Nav.1.1. Epilepsy appears in the first year of life in an otherwise healthy infant; seizures may be focal, unilateral or generalized and facilitated by fever. The disease is progressive and during its course neurological signs change, comorbidities appear and cognitive deficits become highly disabling. Currently, early diagnosis of the syndrome is possible, nevertheless, up today, many adult cases remain not yet diagnosed, especially if the clinical childhood history is fragmented. A preliminary stereophotogrammetric morphometric evaluation of facial soft tissues of six Dravet syndrome patients (3 males, 3 females, aged between 16 and 37 years) was performed with the aim of facilitating the recognition of the syndrome also in adult patients and identifying morphological common facial features in affected patients.The three-dimensional coordinates of a set of facial landmarks, identified on the faces of the patients, were collected and compared to the coordinates of a group of reference subjects, paired for age, sex and ethnicity and previously acquired. From these coordinates, linear measurements were performed and z-scores were computed. The analysis of z-scores showed that patients had a reduction of mandibular ramus length (z-score = -1.7) and a consequent reduction of the ratio between the anterior and posterior facial heights (z-score = -1.3). Furthermore, 4 of the 6 patients had a reduction of the labial philtrum width. Despite the reduced number of patients, this preliminary report shows the presence of dysmorphic features among them. These results could give a support for a correct diagnosis in adult patients and could indicate a possible role of SCN1A or close genes in facial morphogenesis.

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A systematic review of the oral and craniofacial manifestations of cri du chat syndrome

Cited by 11 publications

References 23 publications

Impact of rare diseases in oral health

Impact of rare diseases in oral health

Metallothioneins in Failure of Dental Implants and Periodontitis Down Syndrome Patients

Three-Dimensional Stereophotogrammetric Analysis of Adults Affected by Dravet Syndrome

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