Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation.

Background Loeys-Dietz syndrome (LDS), an autosomal dominant rare connective tissue disorder, has multisystemic manifestations, characterised by vascular tortuosity, aneurysms and craniofacial manifestations. Based on the associated gene mutations along the transforming growth factor-beta (TGF-ß) pathway, LDS is presently classified into six subtypes. Methods We present the oro-dental features of a cohort of 40 patients with LDS from five subtypes. Results The most common oro-dental manifestations were the presence of a high-arched and narrow palate, and enamel defects. Other common characteristics included bifid uvula, submucous cleft palate, malocclusion, dental crowding and delayed eruption of permanent teeth. Both deciduous and permanent teeth had enamel defects in some individuals. We established a grading system to measure the severity of enamel defects, and we determined that the severity of the enamel anomalies in LDS is subtype-dependent. In specific, patients with TGF-ß receptor II mutations (LDS2) presented with the most severe enamel defects, followed by patients with TGF-ß receptor I mutations (LDS1). LDS2 patients had higher frequency of oro-dental deformities in general. Across all five subtypes, as well as within each subtype, enamel defects exhibited incomplete penetrance and variable expression, which is not associated with the location of the gene mutations. Conclusion This study describes, in detail, the oro-dental manifestations in a cohort of LDS, and we conclude that LDS2 has the most severely affected phenotype. This extensive characterisation, as well as some identified distinguishing features can significantly aid dental and medical care providers in the diagnosis and clinical management of patients with this rare connective tissue disorder.

Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders.

Dental anomalies occur frequently in a number of genetic disorders and act as major signs in diagnosing these disorders. We present definitions of the most common dental signs and propose a classification usable as a diagnostic tool by dentists, clinical geneticists, and other health care providers. The definitions are part of the series Elements of Morphology and have been established after careful discussions within an international group of experienced dentists and geneticists. The classification system was elaborated in the French collaborative network "TÊTECOU" and the affiliated O-Rares reference/competence centers. The classification includes isolated and syndromic disorders with oral and dental anomalies, to which causative genes and main extraoral signs and symptoms are added. A systematic literature analysis yielded 408 entities of which a causal gene has been identified in 79%. We classified dental disorders in eight groups: dental agenesis, supernumerary teeth, dental size and/or shape, enamel, dentin, dental eruption, periodontal and gingival, and tumor-like anomalies. We aim the classification to act as a shared reference for clinical and epidemiological studies. We welcome critical evaluations of the definitions and classification and will regularly update the classification for newly recognized conditions.

Association between developmental dental anomalies, early childhood caries and oral hygiene status of 3-5-year-old children in Ile-Ife, Nigeria.

BACKGROUND: To determine the association between developmental dental anomalies (DDA), early childhood caries (ECC) and oral hygiene status of 3-5-year-old children resident in Ile-Ife, Nigeria. METHODS: This was a cross-sectional study. We analyzed data for 3-5-year-olds extracted from the dataset of a household survey collected to determine the association between ECC and maternal psychosocial wellbeing in children 0-5-year-old. The outcome variables for the study were ECC and poor oral hygiene. The explanatory variable was the presence of developmental dental anomalies (supernumerary, supplemental, mesiodens, hypodontia, macrodontia, microdontia, peg-shaped lateral, dens evaginatus, dens invaginatus, talons cusp, fusion/germination, hypoplasia, hypomineralized second molar, fluorosis, amelogenesis imperfecta). The prevalence of each anomaly was determined. Poisson regression analysis was conducted to determine the association between presence of developmental dental anomalies, ECC and oral hygiene status. The model was adjusted for sex, age and socioeconomic status. RESULTS: Of the 918 children examined, 75 (8.2%) had developmental dental anomalies, 43 (4.7%) had ECC, and 38 (4.1%) had poor oral hygiene. The most prevalent developmental dental anomalies was enamel hypoplasia (3.9%). Of the 43 children with ECC, 6 (14.0%) had enamel hypoplasia and 3 (7.6%) had hypomineralized second primary molar. There was a significant association between ECC and enamel hypoplasia (p < 0.001) and a borderline association between ECC and hypomineralized second primary molars (p = 0.05). The proportion of children with poor oral hygiene (PR: 2.03; 95% CI: 0.91-4.56; p = 0.09) and ECC (PR: 2.02; 95% CI: 0.92-4.46; p = 0.08) who had developmental dental anomalies was twice that of children with good oral hygiene and without ECC respectively, although the differences did not reach statistical significance. CONCLUSIONS: Enamel hypoplasia and hypomineralized second primary molars are developmental dental anomalies associated with ECC. developmental dental anomalies also increases the probability of having poor oral hygiene in the population studied.

Dental anomalies and orthodontic characteristics in patients with pseudohypoparathyroidism.

BACKGROUND: Pseudohypoparathyroidism (PHP) is a rare and inherited disease caused by mutations in the GNAS-gene or upstream of the GNAS complex locus. It is characterized by end-organ resistance to PTH, resulting in hypocalcemia and hyperphosphatemia. We aimed to investigate the dental anomalies according to tooth types and the orthodontic characteristics of patients with PHP. METHODS: Using a cross-sectional design, 29 patients (23 females) with PHP, living in Denmark, were included, and their clinical intraoral photos and radiographs were examined. RESULTS: Pulp calcification was found in 76% of the patients. Blunting of root apex was present in 55% and shortening of root in 48% of the examined patients. Blunting and shortening of roots were seen more often in premolars than in other tooth types (pboth < 0.01). Crowding of lower anterior teeth was frequently observed (36%) as well as diastema in the upper arch (25%), midline diastema (18%), and Class III malocclusion (11%). CONCLUSION: In the present study population, the teeth were frequently affected by pulp calcification and/or deviation of the root morphology. Blunting and shortening of root(s) were more often seen in premolars than in other tooth types. Class III malocclusion was relatively prevalent. It is important to pay attention to dental anomalies and occlusion in order to provide adequate care for patients with PHP.

A new system for classifying tooth, root and canal anomalies.

Understanding the normal anatomical features as well as the more unusual developmental anomalies of teeth, roots and root canals is essential for successful root canal treatment. In addition to various types of root canal configuration and accessory canal morphology, a wide range of developmental tooth, root and canal anomalies exists, including C-shaped canals, dens invaginatus, taurodontism, root fusion, dilacerations and palato-gingival grooves. There is a direct association between developmental anomalies and pulp and periradicular diseases that usually require a multidisciplinary treatment approach to achieve a successful outcome. A number of classifications have categorized tooth, root and canal anomalies; however, several important details are often missed making the classifications less than ideal and potentially confusing. Recently, a new coding system for classifying root, root canal and accessory canal morphology has been introduced. The purpose of this article is to introduce a new system for classifying tooth, root and canal anomalies for use in research, clinical practice and training, which can serve as complementary codes to the recently described system for classifying root, as well as main and accessory canal morphology.

A Morphological Classification Scheme for the Mandibular Hypoplasia in Treacher Collins Syndrome.

BACKGROUND: Mandibular hypoplasia is a hallmark of Treacher Collins syndrome (TCS), and its severity accounts for significant functional morbidity. The purpose of this study is to develop a mandibular classification scheme. METHODS: A classification scheme was designed based on three-dimensional computed tomography (3D-CT) scans to assess 3 characteristic features: degree of condylar hypoplasia, mandibular plane angle (condylion-gonion-menton), and degree of retrognathia (sella-nasion-B point angle). Each category was graded from I to IV and a composite mandible classification was determined by the median value among the 3 component grades. RESULTS: Twenty patients with TCS, aged 1 month to 20 years, with at least one 3D-CT prior to mandibular surgery were studied. Overall, 33 3D-CTs were evaluated and ordered from least to most severe phenotype with 10 (30%) Grade 1 (least severe), 14 (42%) Grade 2, 7 (21%) Grade 3, and 2 (7%) Grade 4 (most severe). Seven patients had at least 2 longitudinal scans encompassing an average 5.7 (range 5-11) years of growth. Despite increasing age, mandibular classification (both components and composite) remained stable in those patients over time (P = 0.2182). CONCLUSION: The authors present a classification scheme for the TCS mandible based on degree of condylar hypoplasia, mandibular plane angle (Co-Go-Me angle), and retrognathia (SNB angle). While there is a natural progression of the mandibular morphology with age, patients followed longitudinally demonstrate consistency in their classification. Further work is needed to determine the classification scheme's validity, generalizability, and overall utility.

The prevalence, pattern and clinical presentation of developmental dental hard-tissue anomalies in children with primary and mix dentition from Ile-Ife, Nigeria.

BACKGROUND: The study of dental anomalies is important because it generates information that is important for both the anthropological and clinical management of patients. The objective of this study is to determine the prevalence and pattern of presentation of dental hard-tissue developmental anomalies in the mix dentition of children residing in Ile-Ife, a suburban region of Nigeria. METHODS: Information on age, sex and socioeconomic status was collected from 1,036 children aged four months to 12 years through a household survey. Clinical examination was conducted to assess the presence of dental anomalies. Associations between age, sex, socioeconomic status, prevalence, and pattern of presentation of the developmental hard-tissue dental anomalies were determined. RESULT: Two hundred and seventy six (26.6%) children had dental anomalies. Of these, 23.8% had one anomaly, 2.5% had two anomalies, and 0.3% had more than two anomalies. Of the children with anomalies, 49.3%were male, 50.7%were female, and 47.8%, 28.6% and 23.6% were children from low, middle and high socioeconomic classes, respectively. More anomalies were seen in permanent than primary dentition. Anomalies of tooth structure were most prevalent (16.1%); anomalies which affect tooth number were least prevalent (1.3%). Dens evaginatus, peg-shaped lateral, macrodontia, and talon cusp were more prevalent in the permanent dentition, and dens evaginatus peg-shaped lateral and macrodontia were more prevalent in the maxilla. There were significantly more macrodontia anomalies in males and in children of high socioeconomic status. CONCLUSION: This large survey of dental hard-tissue anomalies found in the primary dentition and mixed dentition of children in Nigeria provides anthropological and clinical data that may aid the detection and management of dental problems of children in Nigeria.

Using cone beam computed tomography images to diagnose multiple taurodontisms.

Taurodontism is a developmental anomaly that manifests as an alteration in a patient's internal morphology and is characterized by the lack of constriction at the level of the cementoenamel junction, which results in an apical extension of the pulp chamber that extends into the root area of a multiradicular tooth. This report presents a case of an otherwise healthy patient with 12 hypertaurodontic teeth, which were detected by using cone beam computed tomography (CBCT). It is essential to emphasize the importance of routine imaging examinations for diagnosing developmental dental anomalies such as taurodontism, as this condition is generally not found by routine oral examination, and is not necessarily restricted to syndromic patients. CBCT images contribute to the diagnosis of and treatment plan for taurodontism.

Application of the dental aesthetic index in the prioritisation of orthodontic service needs.

OBJECTIVE: The provision of orthodontic treatment to patients in government funded training institutions is a major challenge due to constrained budget and resource allocation. The Dental Aesthetic Index (DAI) has been used to estimate orthodontic treatment need and as a screening tool to determine treatment priority. The DAI focuses on aesthetics and therefore omits other malocclusion traits that might require orthodontic treatment. The aim of the study was to compare the application of the DAI with the influence other malocclusion traits not included in the DAI might have on the determination of the prioritisation of orthodontic service need. METHODS: Hundred-and-twenty pretreatment study models of orthodontic patients in the permanent dentition stage were selected from the archived records of the Department of Orthodontics, University of Limpopo, using a systematic sampling method. The study casts were assessed using the DAI. Other malocclusion traits not included in the DAI were also recorded. Descriptive statistics, the Pearson correlation coefficient, Chi-square values and t-tests were employed to analyse the data. P values less than or equal to 0,05 were considered statistically significant. RESULTS: The mean DAI score was 35.2. Normal or minor malocclusion was found in 19.1% of the sample, whilst 17.5% had definitive malocclusion, 21.7% severe malocclusion, and 41.7% showed handicapping malocclusion. Other malocclusion traits not included in the DAI were identified and these traits accounted for 21.6% of all traits recorded in the study (DAI malocclusion traits accounted for 78.4%). Two thirds of other malocclusion traits were accounted for in categories which the DAI had already prioritised for treatment. CONCLUSIONS: The study showed that the DAI can be used to prioritise orthodontic service needs and could be applied in government funded institutions.

Side of dental anomalies and taurodontism as potential clinical markers for cleft subphenotypes.

OBJECTIVE: The aim of this work was to investigate in more detail the dental clinical features that could serve to define subphenotypes of oral clefts. DESIGN: Dental records of oral cleft subjects from a group of 164 cases were examined, and 157 were included in this study. In addition, 65 families with two or more siblings born with clefts and 30 control families were evaluated to determine whether dental phenotypes were sporadic. Type of oral cleft and dental phenotypes (tooth agenesis, supernumerary teeth, taurodontism, dental transposition, and microdontia) outside the cleft area were investigated. Association of dental anomalies with preferential subtypes of cleft (subphenotype) was assessed. RESULTS: A total of 74 subjects presented at least one developmental dental anomaly. Tooth agenesis was the most common dental anomaly (28.6%), followed by taurodontism (15.2%). Supernumerary teeth were associated with cleft palate only (p  =  .05). The absence of maxillary left lateral incisors was significantly associated with unilateral right cleft lip (p  =  .02). Bilateral clefts were strongly associated with bilateral dental anomalies (p < 0.001). In the cleft lip and palate group, tooth agenesis was associated with dental transposition (p  =  .03) and with supernumerary teeth (p  =  .009). Subjects with oral clefts have a higher risk of tooth agenesis (odds ratio  =  3.33; 95% confidence interval, 1.18 to 10.13) and taurodontism (odds ratio  =  3.95; 95% confidence interval, 2.28 to 6.82). Tooth agenesis, microdontic upper lateral incisors, and supernumerary teeth were most commonly found in unaffected siblings and parents of children born with clefts in comparison with families with no family history of clefts (p  =  .01). CONCLUSION: The preferential associations between specific cleft types with dental phenotypes suggest dental anomalies can be used as clinical markers to define the subphenotype isolated cleft lip and palate.

Developmental dental defects linked with chemoradiotherapy: a case report.

Developmental orofacial dentoalveolar complications associated with chemoradiotherapy in an 8 year old child with a history of rhabdomyosarcoma are reported. This report details, clinically and radiographically, these effects in a child diagnosed at 3 years of age with a lesion primary to the left buccinator. Early evaluation is vital to determine potential dentoalveolar complications and long-term consequences.

New cladotherian mammal from southern Chile and the evolution of mesungulatid meridiolestidans at the dusk of the Mesozoic era.

In the last decades, several discoveries have uncovered the complexity of mammalian evolution during the Mesozoic Era, including important Gondwanan lineages: the australosphenidans, gondwanatherians, and meridiolestidans (Dryolestoidea). Most often, their presence and diversity is documented by isolated teeth and jaws. Here, we describe a new meridiolestidan mammal, Orretherium tzen gen. et sp. nov., from the Late Cretaceous of southern Chile, based on a partial jaw with five cheek teeth in locis and an isolated upper premolar. Phylogenetic analysis places Orretherium as the earliest divergence within Mesungulatidae, before other forms such as the Late Cretaceous Mesungulatum and Coloniatherium, and the early Paleocene Peligrotherium. The in loco tooth sequence (last two premolars and three molars) is the first recovered for a Cretaceous taxon in this family and suggests that reconstructed tooth sequences for other Mesozoic mesungulatids may include more than one species. Tooth eruption and replacement show that molar eruption in mesungulatids is heterochronically delayed with regard to basal dryolestoids, with therian-like simultaneous eruption of the last premolar and last molar. Meridiolestidans seem endemic to Patagonia, but given their diversity and abundance, and the similarity of vertebrate faunas in other regions of Gondwana, they may yet be discovered in other continents.

Development of an illustrated index of tooth appearance-perception-based quantification of tooth discolouration and surface defects.

BACKGROUND: Existing indices to quantify tooth discolouration are mostly aetiology-specific. An index of tooth appearance (IOTA), derived from all types of tooth discolouration and surface defects, would allow the quantification of attractiveness for psychological assessment and treatment planning OBJECTIVE: To develop a perception based IOTA for quantification of all forms of tooth discolouration and surface defects. METHODS: One hundred images of discoloured teeth were twice ranked by a panel of judges according to perceived attractiveness. Mean image score was then used to arrange the images into a continuum of attractiveness and from these, ten images were selected, to constitute the illustrated IOTA. A second panel of judges assessed 35 clinical pictures using the IOTA, on two occasions. RESULTS: The first 100 images were assessed with a correlation of 0.79-0.81 between the two ranking sessions and with intra-group reproducibility of 0.8-0.94. The second panel of judges used the developed IOTA quickly, with an intra-judge correlation of 0.87 and inter-judge reliability of 0.72 and 0.74 for two sessions. CONCLUSIONS: The IOTA could be used by clinicians as a tool for quantifying disfigurement in teeth, irrespective of aetiology or histology.

Maxillary dental anomalies in children with cleft lip and palate: a controlled study.

OBJECTIVE: To evaluate the prevalence of dental abnormalities of the primary and permanent maxillary dentitions in children affected by unilateral (UCLP) and bilateral (BCLP) cleft of the lip and palate. METHODS: One hundred and fifty-six Caucasian patients (64 females and 92 males) affected by non-syndromic UCLP or BLCP were selected. A control sample of 1000 subjects (482 males and 518 females) without CLP was selected. All comparisons were carried out by means of z-tests on proportions. RESULTS: The prevalence rate for missing primary lateral incisors in UCLP subjects was 8.1% and it was 27.9% for the permanent lateral incisors. In BLCP subjects, the prevalence rates were 17% for the primary lateral incisors and 60% for the permanent lateral incisors. The second premolar was absent in 5.4% of UCLP subjects and in 8.8% in the BCLP sample. The statistical analysis revealed significant differences for the prevalence rates of all dental anomalies compared with the control group except for second premolar agenesis. CONCLUSIONS: In both UCLP and BCLP subjects the most prevalent missing teeth were the lateral incisors. The dental anomalies occurred predominantly in the cleft area, thus suggesting that the effect of the cleft disturbance is more local than general on the dentition.

Prevalence of enamel defects related to pre-, peri- and postnatal factors in a Brazilian population.

OBJECTIVES: The aim of this paper is to evaluate the prevalence of enamel defects in infants from a socially and economically poor population and the possible association of these defects with disturbances occurring in the pre-, peri- and postnatal periods of human development. PARTICIPANTS: 117 infants aged between 16 and 18 months old were included in four groups based on gestational age and whether part or full term pregnancy. METHOD: The data were collected in two stages: hospital-based, where gestational and birth records were examined, and home-based, where dental examinations and nutrition were evaluated. The teeth were cleaned and dried with gauze and examined in the open air, avoding direct sunlight in the knee-to-knee position. The enamel defects were coded according to the modified Developmental Defects of Enamel Index. Besides this, body weight and height were considered as anthropometric measures for the evaluation of nutritional status by the National Center for Health Statistics standards. MAIN OUTCOME MEASURES: The data were analyzed using the chi-square and Fisher Exact tests. Besides these tests, logistic regression models were used. RESULTS: The prevalence of enamel defects was 49.6%, higher in the group of male infants (p<0.001). The most frequent type of defect and the most affected surface were, respectively, diffuse opacity (9.5%) and the buccal surface (83.3%), located in the gingival half (6.7%). The logistic regression model showed that educational level, gestational age and intrauterine growth retardation (IUGR), besides a lack of breastfeeding, increased the probability of enamel defects up to level of 5%. CONCLUSIONS: The association between enamel defects and the etiologic factors shown in this study suggest the existence of social influences regarding oral health and teeth development.

A catalogue of anomalies and traits of the primary dentition of southern Chinese.

Variation in size, form and morphology of the teeth result in anomalies such as macrodontia, microdontia, hyperdontia, hypodontia, double tooth, taurodontism and dens in dente. While traits that may occur more commonly in certain ethnic groups may be considered to be specific to that population. The characteristics of these anomalies and traits are presented along with the prevalence figures for their occurrence in primary dentition of southern Chinese.

Various root abnormalities. Report of three cases.

Disturbances during morphodifferentiation of tooth germs are rare in the permanent dentition. Reasons for abnormalities are: trauma (fighting, falling, any sport activity) occurring during the eruption; mechanical blockage of the path of eruption by neoplasms; cysts; supernumerary teeth; therapeutic irradiation of the area; and orthodontic treatment. Abnormalities are classified as dilaceration, extra root formation, double root formation, concrescence, rizomegali and hypercementozis. In this article, three different root abnormalities are presented.

The C-shaped root canal configuration: a review.

Recognition of unusual variations in the canal configuration is critical because it has been established that the root with a single tapering canal and apical foramen is the exception rather than the rule. The early recognition of these configurations facilitates cleaning, shaping, and obturation of the root canal system. "C" configuration, which is an important anatomic variation, presents a thin fin connecting the root canals. Because of the importance of its true diagnosis and treatment, a comprehensive review of published information and investigations about it in addition to approaches for its treatment is necessary.

Hallazgos en radiografías panorámicas de niños entre 6 y 15 años en un hospital odontológico en Argentina / Findings in panoramic radiographs of children between 6 and 15 years at a dental hospital in Argentina

Objetivo: Describir la frecuencia y localización de pato- logías y anomalías dentarias (anomalías de número, tumores, quistes y piezas retenidas) observadas en radiografías pa- norámicas de pacientes pediátricos de entre 6 y 15 años del Hospital Zonal Especializado en Odontología Infantil "Dr. A. Bollini" de la ciudad de La Plata. Materiales y métodos: Se realizó un estudio observa- cional descriptivo de 300 radiografías panorámicas, de niños (n=150) y niñas (n=150) de entre 6 y 15 años, seleccionadas aleatoriamente en el área de radiología del hospital, tomadas en el período comprendido entre marzo de 2018 y marzo de 2020. Los datos obtenidos se volcaron en planillas de cálculo y con ellos se realizó un análisis estadístico descriptivo. Se utilizaron las siguientes variables: edad, sexo, tipo de ano- malía o patología (anomalías de número, tumores, quistes y piezas retenidas), pieza dentaria y ubicación (maxilar o man- díbula). Resultados: Dentro de las anomalías registradas (n=147), se encontraron en mayor medida piezas dentarias retenidas, en un 44,22% de los casos (n=65), agenesias en un 42,18% de los casos (n=62) y supernumerarios en un 13,61% de los casos (n=20). No se hallaron quistes ni tumores. Conclusión: En un 24% de las radiografías panorámicas de niños entre 6 y 15 años se halló alguna anomalía dentaria. Las anomalías más frecuentes fueron piezas dentarias reteni- das y agenesias (AU)

Aim: To describe the frequency and location of dental pathologies and anomalies (number anomalies, tumors, cysts and retained dental pieces) observed in panoramic radio- graphs of pediatric patients between 6 and 15 years of age from the Hospital Especializado en Odontología Infantil "Dr. A. Bollini" from the city of La Plata. Materials and methods: A descriptive observational study was performed based on 300 panoramic radiographs of children (150 girls and 150 boys) between 6 and 15 years old, randomly selected in the Radiology area of the hospital, taken in the period between March 2018 and March 2020. The data obtained were entered into spreadsheets and a descriptive sta- tistical analysis was carried out. The following variables were evaluated: age, sex, type of anomaly or pathology (anomalies of number, tumor, cysts and retained dental pieces), dental piece and location (maxilla or mandible). Results: Among the registered anomalies (n=147), re- tained dental pieces were found to a greater extent, in 44.22% of the cases (n=65), agenesis in 42.18% of the cases (n=62) and supernumeraries in 13.61% of the cases (n=20). No cysts or tumors were found. Conclusion: In 24% of panoramic radiographs of chil- dren between 6 and 15 years old, some dental anomaly was found. The most frequent anomalies were retained dental pieces and agenesis (AU)