Hopeless tooth and less posterior occlusion is related to a greater risk of low handgrip strength: A population-based cross-sectional study.

The effect of severely compromised teeth on masticatory function has not been properly evaluated in previous studies, as they were often considered equivalent to the healthy tooth or excluded as if absent in the dentition. Hopeless teeth, which refer to non-salvageable teeth that require extraction, can interfere with masticatory function. As posterior occlusion is directly related to the masticatory function, we evaluated pairs opposing posterior teeth (POPs) that reflect the arrangement as well as the number of remaining posterior teeth. This study investigated the relationship of a hopeless tooth to handgrip strength according to POPs in the elderly. This cross-sectional study used data from the Korea National Health and Nutrition Examination Survey (KNHANES). Among the data of 23,466 participants from 2015 to 2018, participants aged 60 years or older (n = 4,729) were included. In males with POPs scores of 0-7, considered poor posterior occlusion, the association with low handgrip strength persisted in the multivariate logistic regression model adjusted for all confounding variables. The odds ratio (OR) in the absence of hopeless teeth (OR = 1.91, 95% CI: 1.02-3.59) increased in the presence of a hopeless tooth (OR = 2.78, 95% CI: 1.42-5.47). Even with POPs scores of 8-11, considered good posterior occlusion, the association was significantly high in the presence of a hopeless tooth (OR = 2.82, 95% CI: 1.06-7.52). In females, the association disappeared in adjusted models. The fewer pairs of natural posterior teeth with occlusion, the greater the risk of low handgrip strength. Dentition containing hopeless teeth increases the risk of low handgrip strength, even in dentition with sufficient posterior occlusion. Preserving the posterior teeth in a healthy condition through personal oral hygiene and regular dental management is essential for maintaining components of physical function such as handgrip strength.

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.

KBG syndrome is a neurodevelopmental autosomal dominant disorder characterized by short stature, macrodontia, developmental delay, behavioral problems, speech delay and delayed closing of fontanels. Most patients with KBG syndrome are found to have a mutation in the ANKRD11 gene or a chromosomal rearrangement involving this gene. We hereby present clinical evaluations of 23 patients aged 4 months to 26 years manifesting clinical features of KBG syndrome. Mutation analysis in the patients was performed using panel or exome sequencing and array CGH. Besides possessing dysmorphic features typical of the KBG syndrome, nearly all patients had psychomotor hyperactivity (86%), 81% had delayed speech, 61% had poor weight gain, 56% had delayed closure of fontanel and 56% had a hoarse voice. Macrodontia and a height range of -1 SDs to -2 SDs were noted in about half of the patients; only two patients presented with short stature below -3 SDs. The fact that wide, delayed closing fontanels were observed in more than half of our patients with KBG syndrome confirms the role of the ANKRD11 gene in skull formation and suture fusion. This clinical feature could be key to the diagnosis of KBG syndrome, especially in young children. Hoarse voice is a previously undescribed phenotype of KBG syndrome and could further reinforce clinical diagnosis.

Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics.

Cerebellofaciodental syndrome is characterized by facial dysmorphisms, intellectual disability, cerebellar hypoplasia, and dental anomalies. It is an autosomal-recessive condition described in 2015 caused by pathogenic variants in BRF1. Here, we report a Brazilian patient who faced a diagnostic challenge beginning at 11 months of age. Fortunately, whole-exome sequencing (WES) was performed, detecting the BRF1 variants NM_001519.3:c.1649delG:p.(Gly550Alafs*36) and c.421C>T:p.(Arg141Cys) in compound heterozygosity, thus finally achieving a diagnosis of cerebellofaciodental syndrome. The patient is currently 25 years old and is the oldest patient yet reported. The clinical report and a review of published cases are presented. Atlanto-occipital fusion, a reduced foramen magnum and basilar invagination leading to compression of the medulla-spinal cord transition are skeletal findings not reported in previous cases. The description of syndromes with dental findings shows that such anomalies can be an important clue to relevant differential diagnoses. The cooperation of groups from different international centers made possible the resolution of this and other cases and is one of the strategies to bring medical advances to developing countries, where many patients with rare diseases are difficult to diagnose definitively.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

CTNND1 encodes the p120-catenin (p120) protein, which has a wide range of functions, including the maintenance of cell-cell junctions, regulation of the epithelial-mesenchymal transition and transcriptional signalling. Due to advances in next-generation sequencing, CTNND1 has been implicated in human diseases including cleft palate and blepharocheilodontic (BCD) syndrome albeit only recently. In this study, we identify eight novel protein-truncating variants, six de novo, in 13 participants from nine families presenting with craniofacial dysmorphisms including cleft palate and hypodontia, as well as congenital cardiac anomalies, limb dysmorphologies and neurodevelopmental disorders. Using conditional deletions in mice as well as CRISPR/Cas9 approaches to target CTNND1 in Xenopus, we identified a subset of phenotypes that can be linked to p120-catenin in epithelial integrity and turnover, and additional phenotypes that suggest mesenchymal roles of CTNND1. We propose that CTNND1 variants have a wider developmental role than previously described and that variations in this gene underlie not only cleft palate and BCD but may be expanded to a broader velocardiofacial-like syndrome.

Dental abnormalities in individuals with pathogenic germline variation in DICER1.

Pathogenic germline variation in the microRNA processing gene DICER1 gives rise to an autosomal dominant, tumor-predisposition disorder. Conditional deletion of Dicer1 in murine dental epithelium shows that it controls tooth patterning, size, number, and shape. The human dental phenotype of people with germline pathogenic variation in DICER1 is unknown. DICER1-carriers (n = 57) and family controls (n = 55) were evaluated at the NIH Clinical Center dental clinic as part of a comprehensive medical evaluation. Digital panoramic radiographs, bite-wing radiographs, and oral photographs were collected. A single observer, blind to DICER1 status, reviewed the dental records and determined the presence or absence of 11 dental characteristics as described in the clinic notes, radiographs, or oral photographs. Subjective phenotypes were reviewed on radiographs by two examiners (blind to DICER1 status) for the presence or absence of the dental characteristics to reduce inconsistencies. By simple association, bulbous crown, periodontitis, and taurodontism were all significant (p < .05). Logistic regression with chi-square maximum likelihood estimates showed that bulbous crown and periodontitis remained significant. Recognition of these phenotypes may aid identification of individuals and families at risk for DICER1-associated neoplasms. These findings may also guide dental care for individuals with germline DICER1 pathogenic variation.

Clinical and x-ray oral evaluation in patients with congenital Zika Virus.

OBJECTIVE: The aim of this study was to investigate possible malformations in the soft, bone and/or dental tissues in patients with congenital Zika Virus (ZIKV) by clinical and x-ray evaluation. METHODOLOGY: Thirty children born with ZIKV and 30 children born without ZIKV (control group) were included in the study. Patients were evaluated over 24 consecutive months according to the variables: sex, age, cleft palates, soft tissue lesions, alveolar ridge hyperplasia, short labial and lingual frenums, inadequate posture of the lingual and perioral muscles at rest, micrognathia, narrow palatine vaults, changes in the teeth shape and/or number, sequence eruption, spasms, seizures and eruption delay were evaluated. Chi-square test, Student's t-test and nominal logistic regression were used (p<0.05). RESULTS: Among the 30 babies examined, the mean age of the first dental eruption was 10.8±3.8 with almost two-thirds of the children (n=18, 60%) experiencing eruptions of their first tooth after 9 months of age, nine children (30%) had inadequate lingual posture at rest, more than half of the children (n=18, 60%) had short labial or lingual frenums. ZIKV babies showed a high prevalence of clef palate (p<0.001), inadequate lingual posture at rest (p=0.004), micrognathia (p=0.002), changes in the shape and/or number of teeth (p=0.006), alteration in sequence of dental eruption (p<0.001) and muscles spasms (p=0.002). The delay eruption was associated with inadequate lingual posture at rest (p=0.047), micrognathia (p=0.002) and changes in the shape and/or number of teeth (p=0.021). The delayed eruption (p=0.006) and narrow palatine vaults (p=0.008) were independently associated with ZIKV. Moreover, female patients showed the most narrow palatine vaults (p=0.010). CONCLUSIONS: The children with ZIKV showed a greater tendency to have delayed eruption of the first deciduous tooth, inadequate lingual posture and short labial and lingual frenums.

Dental development in cleft lip and palate patients: A systematic review.

OBJECTIVE: To investigate a potential delay in dental development in cleft patients compared with non-cleft patients. SEARCH METHODS: An unlimited electronic search was performed in four databases (PubMed, Embase, Lilacs and OpenGrey), from inception until October 2018. Full text articles concerning dental development or tooth eruption of non-syndromic children with cleft lip and/or palate (CL(P)) were included and reviewed. Case reports/series, review articles, articles in languages other than English, Dutch, French or Spanish and studies considering the eruption of deciduous teeth were excluded. Data extraction followed the PRISMA guidelines and study quality was assessed using MINORS. RESULTS: The primary search resulted in 991 citations, of which 36 studies were finally analyzed. Most articles were retrospective studies based on panoramic radiographs. A delay in tooth development or -eruption in CL(P) patients was found in 32 out of the 36 included articles. The amount of delay varied from 0.20 to 0.90 years, with a mean delay of 0.56 years for all types of clefts. In UCLP patients, a mean delay of 0.53 years was found. The lateral incisor at the cleft side was generally the most delayed. Conflicting results were found regarding the influence of sex and age. The amount of delay was reported to be independent of the cleft severity or type. The teeth near the cleft generally showed a greater delay than the teeth further away from it. Finally, an increased risk of asymmetrical tooth development in CL(P) patients was observed in all publications studying this aspect. 31 articles were comparative, 5 were non-comparative; with a median MINORS score of 16/24 (range 10-18) and 10/16 (range 8-10) for both groups respectively. CONCLUSIONS: The majority of the included articles reports a delay in dental development or tooth eruption in CL(P) patients compared to non-CL(P) patients. The obtained results could be important for forensic age estimation outcomes and for orthodontic and surgical treatment planning in CL(P) patients. The delay in tooth development implies a delay in start of orthodontic treatment. Moreover, CL(P) patients could falsely be considered to be a minor when applying the existing reference tables for dental age estimation. SYSTEMATIC REVIEW REGISTRATION: International prospective register of systematic reviews (PROSPERO: CRD42018082106).

Exploring the behavioral and cognitive phenotype of KBG syndrome.

KBG syndrome is a neurodevelopmental disorder, caused by dominant mutations in ANKRD11, that is characterized by developmental delay/intellectual disability, mild craniofacial dysmorphisms, and short stature. Behavior and cognition have hardly been studied, but anecdotal evidence suggests higher frequencies of ADHD-symptoms and social-emotional impairments. In this study, the behavioral and cognitive profile of KBG syndrome will be investigated in order to examine if and how cognitive deficits contribute to behavioral difficulties. A total of 18 patients with KBG syndrome and a control group consisting of 17 patients with other genetic disorders with comparable intelligence levels, completed neuropsychological assessment. Age-appropriate tasks were selected, covering overall intelligence, attention, memory, executive functioning, social cognition and visuoconstruction. Results were compared using Cohen's d effect sizes. As to behavior, fewer difficulties in social functioning and slightly more attentional problems, hyperactivity, oppositional defiant behavior and conduct problems were found in the KBG syndrome group. Regarding cognitive functioning, inspection of the observed differences shows that patients with KBG syndrome showed lower scores on sustained attention, cognitive flexibility, and visuoconstruction. In contrast, the KBG syndrome group demonstrated higher scores on visual memory, social cognition and emotion recognition. The cognitive profile of KBG syndrome in this sample indicates problems in attention and executive functioning that may underlie the behavior profile which primarily comprises impulsive behavior. Contrary to expectations based on previous (case) reports, no deficits were found in social cognitive functioning. These findings are important for counseling purposes, for tailored education planning, and for the development of personalized intervention.

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.

BACKGROUND: KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, post-natal short stature, and developmental delays, sometimes associated with seizures and EEG abnormalities. So far, there have been over 100 cases of KBG syndrome reported. CASE PRESENTATION: Here, we describe two sisters of a non-consanguineous family, both presenting generalized epilepsy with febrile seizures (GEFS+), and one with a more complex phenotype associated with mild intellectual disability, skeletal and dental anomalies. Whole exome sequencing (WES) analysis in all the family members revealed a heterozygous SCN9A mutation, p.(Lys655Arg), shared among the father and the two probands, and a novel de novo loss of function mutation in the ANKRD11 gene, p.(Tyr1715*), in the proband with the more complex phenotype. The reassessment of the phenotypic features confirmed that the patient fulfilled the proposed diagnostic criteria for KBG syndrome, although complicated by early-onset isolated febrile seizures. EEG abnormalities with or without seizures have been reported previously in some KBG cases. The shared variant, occurring in SCN9A, has been previously found in several individuals with GEFS+ and Dravet syndrome. CONCLUSIONS: This report describe a novel de novo variant in ANKRD11 causing a mild phenotype of KGB syndrome and further supports the association of monogenic pattern of SCN9A mutations with GEFS+. Our data expand the allelic spectrum of ANKRD11 mutations, providing the first Brazilian case of KBG syndrome. Furthermore, this study offers an example of how WES has been instrumental allowing us to better dissect the clinical phenotype under study, which is a multilocus variation aggregating in one proband, rather than a phenotypic expansion associated with a single genomic locus, underscoring the role of multiple rare variants at different loci in the etiology of clinical phenotypes making problematic the diagnostic path. The successful identification of the causal variant in a gene may not be sufficient, making it necessary to identify other variants that fully explain the clinical picture. The prevalence of blended phenotypes from multiple monogenic disorders is currently unknown and will require a systematic re-analysis of large WES datasets for proper diagnosis in daily practice.

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.

BACKGROUND: Nance-Horan syndrome (NHS) is an X-linked inheritance disorder characterized by bilateral congenital cataracts, and facial and dental dysmorphism. This disorder is caused by mutations in the NHS gene. However, NHS may be difficult to detect in individuals with subtle facial dysmorphism and dental abnormalities in whom congenital cataracts are the primary clinical manifestations. METHODS: In this study, we present a three-generation family with NHS. Whole exome sequencing was performed to determine the potential pathogenic variant in the proband. Further validation was explored with Sanger sequencing in 9 of the available individuals of the family and additional 200 controls. RESULTS: A novel truncation mutation in gene NHS (c.C4449G, p.Tyr1483Ter) was found in the proband, who presented with a long-narrow face, prominent nose and large anteverted pinnae ear, screw-driver like incisors, mild mulberry like molars, one missing maxillary second molar and malocclusion. We found this mutation was detected in 2 male patients and 4 female carriers in the family. However, the mutation was never detected in the control subjects. CONCLUSIONS: In conclusion, we identified a novel truncation mutation in the NHS gene, which might associate with NHS. Our review on the NHS studies illustrated that NHS has significantly clinical heterogeneity. And NHS mutations in the NHS-affected individuals typically result in premature truncation of the protein. And the new mutation revealed in this study would highlight the understanding of the causative mutations of NHS.

Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant.

Biallelic loss of function variants in the TMCO1 gene have been previously demonstrated to result in cerebrofaciothoracic dysplasia (CFTD; MIM #213980). The phenotype of this condition includes severe intellectual disability, as well as distinctive craniofacial features, including brachycephaly, synophrys, arched eyebrows, "cupid's bow" upper lip, and microdontia. In addition, nonspecific skeletal anomalies are common, including bifid ribs, scoliosis, and spinal fusion. Only 19 molecularly confirmed patients have been previously described. Here, we present four patients with CFTD, including three brothers from a Pakistani background and an additional unrelated white Scottish patient. All share the characteristic craniofacial appearance, with severe intellectual disability and skeletal abnormalities. We further define the phenotype with comparison to the published literature, and present images to define the dysmorphic features in a previously unreported ethnic group. All of our patient series are homozygous for the same c.292_293del (p.Ser98*) TMCO1 pathogenic variant, which has been previously reported only in an isolated Amish population. Thus we provide evidence that CFTD may be more common than previously thought. The patients presented here further delineate the phenotypic spectrum of CFTD and provide evidence for a recurrent pathogenic variant in TMCO1.

Dental developmental alterations in patients with dilacerated teeth.

BACKGROUND: The aim of this study was to record and analyze all DDAs associated to dilacerated teeth in patients attending the clinics of the Postgraduate Division, Facultad de Odontología, UNAM in Mexico City. MATERIAL AND METHODS: Orthopantomograms from all patients seeking for stomatological attention in our institution were reviewed and those cases of dilaceration were separated. Age, gender, diagnosis, location, involved teeth and associated DDAs were recorded and analyzed. RESULTS: From 6,340 patients, 99 (1.6%) harbored 125 dilacerated teeth. Of them, 45 (45.5%) showed one or more DDAs. The most frequently detected DDAs were hypodontia, enamel pearls, taurodontism and microdontia. CONCLUSIONS: 45.5% is a very high proportion of DDAs in patients with dilacerated roots. Findings from this study strongly suggest that patients with dilacerated teeth should be carefully screened since many of them could present other DDAs. Simultaneous occurrence of dilaceration and DDAs suggests synchronic developmental defects during dental growth.

Clinical and x-ray oral evaluation in patients with congenital Zika Virus

Abstract Objective: The aim of this study was to investigate possible malformations in the soft, bone and/or dental tissues in patients with congenital Zika Virus (ZIKV) by clinical and x-ray evaluation. Methodology: Thirty children born with ZIKV and 30 children born without ZIKV (control group) were included in the study. Patients were evaluated over 24 consecutive months according to the variables: sex, age, cleft palates, soft tissue lesions, alveolar ridge hyperplasia, short labial and lingual frenums, inadequate posture of the lingual and perioral muscles at rest, micrognathia, narrow palatine vaults, changes in the teeth shape and/or number, sequence eruption, spasms, seizures and eruption delay were evaluated. Chi-square test, Student's t-test and nominal logistic regression were used (p<0.05). Results: Among the 30 babies examined, the mean age of the first dental eruption was 10.8±3.8 with almost two-thirds of the children (n=18, 60%) experiencing eruptions of their first tooth after 9 months of age, nine children (30%) had inadequate lingual posture at rest, more than half of the children (n=18, 60%) had short labial or lingual frenums. ZIKV babies showed a high prevalence of clef palate (p<0.001), inadequate lingual posture at rest (p=0.004), micrognathia (p=0.002), changes in the shape and/or number of teeth (p=0.006), alteration in sequence of dental eruption (p<0.001) and muscles spasms (p=0.002). The delay eruption was associated with inadequate lingual posture at rest (p=0.047), micrognathia (p=0.002) and changes in the shape and/or number of teeth (p=0.021). The delayed eruption (p=0.006) and narrow palatine vaults (p=0.008) were independently associated with ZIKV. Moreover, female patients showed the most narrow palatine vaults (p=0.010). Conclusions: The children with ZIKV showed a greater tendency to have delayed eruption of the first deciduous tooth, inadequate lingual posture and short labial and lingual frenums.

Non-syndromic hypodontia of permanent dentition associated with other dental anomalies in children and adolescents.

Anomalies of permanent dentition, by the frequency of the cases, also correspond to some unanimously recognized problems of public health. The objective of this study is to determine the prevalence of non-syndromic hypodontia and oligodontia and to identify the types of associated dental anomalies in the permanent dentition of children and adolescents in the NW of Romania. The study was conducted between 2008 and 2015 on a group of 566 children aged between 12-18 years old. Dental agenesis was diagnosed using clinical and radiological criteria. The numbers and types of teeth missing were noted. Third molars were excluded. Hypodontia had a prevalence of 2% in girls and 3.76% in boys (p=0.007), and oligodontia of 0.33% in girls and 0.38% in boys (p=0.367). Unique abnormalities were registered at 1% in girls and 1.5% in boys (p=0.026), those with two associations at 0.67% in girls and 1.5% in boys (p=0.015), and those with triple association at 0.67% in girls and 1.13% in boys (p=0.037). Hypodontia∕oligodontia has been identified in association with other dental abnormalities, such as inclusion, microdontia, and enamel hypomineralization. The most frequent was the association of hypodontia with enamel hypomineralization.

West Nile Neuroinvasive Disease Presenting as Elsberg Syndrome.

INTRODUCTION: Elsberg syndrome (ES) is a rarely recognized cause of cauda equina syndrome and lower thoracic myelitis, mainly linked to reactivation, or occasionally primary, infection with herpes simplex virus type 2. West Nile virus neuroinvasive disease is rarely considered in the differential diagnosis of patients with ES. CASE REPORT: A 63-year-old man with pancreatic cancer in remission and polymyalgia rheumatica on low-dose prednisone presented with a 10-day history of low-back pain and a viral-type illness with low-grade fever, nausea, and vomiting. Days later, he developed left leg monoparesis, neurogenic bladder, and bowel. Magnetic resonance imaging of the lumbar spine revealed a hyperintense signal abnormality within the central spinal cord and conus medullaris with mild swelling of the conus. Cells, proteins, and glucose in cerebrospinal fluid were 67/mm, 70 mg/dL, and 58 mg/dL, respectively. Serology was positive for West Nile virus IgM. Nerve conduction studies and electromyography showed an acute motor neurogenic process affecting left lumbosacral segments. CONCLUSIONS: West Nile virus neuroinvasive disease is an uncommon condition that should be considered in patients with ES. Determining the etiology of ES in the acute setting may avoid unnecessary diagnostic investigations and treatments.

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.

LonP1 is a mitochondrial matrix protease whose selective substrate specificity is essential for maintaining mitochondrial homeostasis. Recessively inherited, pathogenic defects in LonP1 have been previously reported to underlie cerebral, ocular, dental, auricular and skeletal anomalies (CODAS) syndrome, a complex multisystemic and developmental disorder. Intriguingly, although classical mitochondrial disease presentations are well-known to exhibit marked clinical heterogeneity, the skeletal and dental features associated with CODAS syndrome are pathognomonic. We have applied whole exome sequencing to a patient with congenital lactic acidosis, muscle weakness, profound deficiencies in mitochondrial oxidative phosphorylation associated with loss of mtDNA copy number and MRI abnormalities consistent with Leigh syndrome, identifying biallelic variants in the LONP1 (NM_004793.3) gene; c.1693T > C predicting p.(Tyr565His) and c.2197G > A predicting p.(Glu733Lys); no evidence of the classical skeletal or dental defects observed in CODAS syndrome patients were noted in our patient. In vitro experiments confirmed the p.(Tyr565His) LonP1 mutant alone could not bind or degrade a substrate, consistent with the predicted function of Tyr565, whilst a second missense [p.(Glu733Lys)] variant had minimal effect. Mixtures of p.(Tyr565His) mutant and wild-type LonP1 retained partial protease activity but this was severely depleted when the p.(Tyr565His) mutant was mixed with the p.(Glu733Lys) mutant, data consistent with the compound heterozygosity detected in our patient. In summary, we conclude that pathogenic LONP1 variants can lead to a classical mitochondrial disease presentations associated with severe biochemical defects in oxidative phosphorylation in clinically relevant tissues.

WNT10B mutations associated with isolated dental anomalies.

Isolated hypodontia is the most common human malformation. It is caused by heterozygous variants in various genes, with heterozygous WNT10A variants being the most common cause. WNT10A and WNT10B are paralogs that likely evolved from a common ancestral gene after its duplication. Recently, an association of WNT10B variants with oligodontia (severe tooth agenesis) has been reported. We performed mutational analysis in our cohort of 256 unrelated Thai families with various kinds of isolated dental anomalies. In 7 families afflicted with dental anomalies we detected 4 heterozygous missense variants in WNT10B. We performed whole exome sequencing in the patients who had WNT10B mutations and found no mutations in other known hypodontia-associated genes, including WNT10A, MSX1, PAX9, EDA, AXIN2, EDAR, EDARADD, LPR6, TFAP2B, LPR6, NEMO, KRT17, and GREM2. Our findings indicate that the variants c.475G>C [p.(Ala159Pro)], found in 4 families, and c.1052G>A [p.(Arg351His)], found in 1 family, are most probably causative. They also show that WNT10B variants are associated not only with oligodontia and isolated tooth agenesis, but also with microdontia, short tooth roots, dental pulp stones, and taurodontism.

Diferentes métodos biométricos para el diagnóstico de taurodontismo / Different biometric methods for the diagnosis of taurodontism

El taurodontismo es una anomalía del desarrollo que afecta a la morfología del tejido pulpar. Los dientes con esta alteración, presentan una amplia cámara pulpar en sentido ocluso-apical más allá de la unión amelocementaria. El objetivo de este artículo es describir de forma sintetizada y actualizada los métodos biométricos que pueden ser utilizados en el diagnóstico de taurodontismo en dentición permanente. Éstos nos permiten determinar no sólo la presencia de taurodontismo sino también el grado en el que esta alteración puede presentarse (hipertaurodontismo, mesotaurodontismo e hipotaurodontismo). A pesar de la evolución que han experimentado a lo largo del siglo pasado, la principal desventaja que presentan estas valoraciones métricas en la actualidad, es la dificultad para localizar los puntos de referencia de una forma reproducible sobre radiografías panorámicas (AU)

Taurodontism is a developmental anomaly that affects the morphology of the pulp tissue. The teeth with this alteration, present a large pulp chamber in occlusal-apical sense beyond the amelocementary union. The objective of this article is to describe in a synthesized and updated way the biometric methods that can be used in the diagnosis of taurodontism in permanent dentition. These allow us to determine not only the presence of taurodontism but also the degree to which this alteration can occur (hypertaurodontism, mesotaurodontism and hypotaurdontism). In spite of the evolution that they have undergone during the last century, the main disadvantage that present these metric valuations at present, is the difficulty to locate the points of reference of a reproducible form on panoramic radiographs (AU)

Prevalencia de Anomalías Dentomaxilares y Necesidad de Tratamiento en Adolescentes / Prevalence of Dentomaxillary Anomalies and Treatment Needs in Adolescents

RESUMEN: Las anomalías dentomaxilares (ADM) constituyen un problema de salud pública en Chile, lo que genera la necesidad de un diagnóstico sistemático y la asignación de prioridades de tratamiento. Las ADM que afectan la estética pueden constituir una barrera para la inserción social de los adolescentes. El Dental Aesthetic Index (IED), es un instrumento que permite jerarquizar la necesidad de tratamiento de las ADM. El propósito de esta investigación fue caracterizar las ADM, necesidad de tratamiento a través de IED y auto-percepción estética en escolares de 12 a 15 años. Estudio de Prevalencia en adolescentes de 12 a 15 años, de la ciudad de Viña del Mar. El criterio de exclusión fue tratamiento ortodóncico previo. Se seleccionaron 204 sujetos mediante asignación uniforme con un nivel de confianza de 95 %. Variables recogidas: Edad, tipo de establecimiento educacional, sexo, percepción estética y IED por componentes. La prevalencia según IED fue de 63 % [56 % - 70 %]. La necesidad de tratamiento fue 44,2 % electivo, 31,01 % altamente deseable y 24,81 % obligatorio y prioritario. El IED Comunitario dio 29.5. Se encontró una relación significativa entre IED y percepción estética con un p-valor: 0,006 (Rho: 0,343). La prevalencia de anomalías dentomaxilares medido a través del indicador IED alcanza el 63 % y el IED comunitario de 29,54 % afirmando que el grupo "requiere tratamiento electivo por ADM definida"; en los establecimientos particulares está subestimado pues algunos casos ya han sido tratados con anterioridad a esta investigación.

ABSTRACT: Dentomaxillary anomalies are a public health problem in Chile, resulting in the need for screening and prioritization of treatment. Dentomaxillary anomalies affecting the aesthetics can be a barrier to social integration of adolescents. The Dental Aesthetic Index (DAI) is an instrument to prioritize the need for treatment of malocclusions. The purpose of this research was to characterize the malocclusions, orthodontic treatment needs and esthetic self-perception in schoolchildren from 12 to 15 years through DAI. Prevalence Study in 12 to 15 year-old adolescents from Viña del Mar. The exclusion criteria was previous orthodontic treatment. The sample was 204 subjects selected by uniform allocation with a confidence level of 95 %. Variables included age, type of educational establishment, sex, aesthetic perception and DAI by component. Prevalence of dentomaxillary anomalies by DAI was 63 % [56 % - 70 %], Treatment needs were 44.2 % treatment elective, 31.01 % highly desirable and 24.81 % mandatory. The Community's DAI was 29.5. The relationship between DAI and aesthetic perception was significant (p-value: 0.006; Rho: 0.343). The prevalence of dento-maxillary anomalies measured by DAI reaches 63 % and the communal DAI was 29.54 stating that the group "requires elective treatment for definite malocclusion"; in private schools, it is underestimated because some cases had already been treated prior to this investigation.