Hypoplastic Teeth Research Articles

The Spondylocarpotarsal Synostosis Syndrome Case with Ventricular Septal Defect Caused by a Homozygous Frameshift Variation in FLNB

AbstractSpondylocarpotarsal synostosis syndrome (SCT) (OMIM: 272460), an autosomal recessive disorder, is characterized by block vertebrae, carpal–tarsal synostosis, and disproportionate short stature. The clinical features of SCT include dysmorphic facial traits, cleft palate, hypoplastic tooth enamel, brachydactyly, clinodactyly, limited joint movement, and mixed hearing loss. SCT is associated with biallelic nonsense and frameshift pathogenic variants in the FLNB gene. An 8-year-old patient was referred with suspected skeletal dysplasia. The patient presented with short stature, scoliosis, carpal–tarsal synostosis, and ventricular septal defect (VSD). Clinical exome sequence analysis revealed a homozygous frameshift variation in the FLNB gene (c.219_222dup p.Met75Profs*17). No other pathogenic variations in genes related to VSD were found. This study aims to discuss novel clinical findings related to the genotype–phenotype association. To the best of our knowledge, this is the first reported case of SCT with VSD.

Dental anomalies and their therapeutic implications: retrospective assessment of a frequent finding in patients with cleft lip and palate

BackgroundOrofacial clefts are characterized by a frequent occurrence of dental anomalies. Numerous studies demonstrate the high prevalence of dental aplasia, supernumerary teeth, and hypoplastic teeth in patients with cleft lip with/without cleft palate (CL/P), yet the therapeutic consequences are rarely discussed. This study explores prevalence, localization, and association between primary and secondary dentition in a large European collective and begins to evaluate the significance of dental anomalies in the therapeutic course of patients with CL/P.MethodsThe medical reports of 1070 patients with different entities of CL/P who presented to our clinic within a 15-year investigation period were evaluated retrospectively. Dental anomalies were classified into three different diagnostic groups: dental aplasia, supernumerary teeth and hypoplastic teeth. The statistical analyses included studies of the frequency and localization of dental anomalies in different cleft entities as well as of the association between primary and secondary dentition and the therapeutic consequences.ResultsUni- or bilateral cleft lip and palate (CLP) (47.5%) occurred most frequently, followed by cleft palate only (CPO) (32.9%) and cleft lip with or without alveolus (CL ± A) (19.6%). Dental anomalies were found significantly more often on the side of the cleft. Aplastic permanent teeth were mostly found in patients with CLP (54.8%), while supernumerary permanent teeth occurred primarily in patients with CL ± A (21.7%). Patients with CPO presented dental aplasia but no patient with CPO showed supernumerary teeth. The occurrence of dental aplasia in the primary dentition significantly increases the probability of aplastic teeth in the permanent dentition. Dental anomalies, in particular dental aplasia, significantly increase patients’ need for subsequent orthodontic therapy and orthognathic surgery.ConclusionDental aplasia and hypoplasia are common in patients with CL/P not only in the cleft area but in the whole dentition. In the event of dental aplasia in the primary dentition, the frequency of aplastic teeth in the permanent dentition is significantly higher. Additionally, the need for therapeutic interventions, especially concerning orthognathic surgery, seems to be significantly higher in patients with CL/P who are affected by dental anomalies. Clinicians should take this into account when creating long-term treatment plans.

Oral health status of patients with inherited bone marrow failure syndromes

Inherited bone marrow failure syndromes (IBMFS), including Fanconi anemia (FA), Diamond-Blackfan anemia (DBA) and congenital neutropenia (CN), are rare diseases related to impaired hematopoiesis in different hematopoietic cell lineages in the bone marrow. Oral health may be impaired in these patients related to the disease itself, due to cytopenia , or related to the drugs the patients use, such as glucocorticoids . The present research was aimed to present the oral health status of patients with IBMFS. This descriptive study was conducted with 27 children and adolescents (11 FA,9 DBA,7 CN). The data was collected via a structured and pre-tested questionnaire and by oral-dental examination clinically and, if needed, radiographically. Dental caries was evaluated with “Decayed, Missing, Filled Tooth/Surface indices (dmft/s, DMFT/S)” and “International-Caries-Detection-and-Evaluation-System-(ICDAS-II)”. The patients' oral hygiene and gingival health status were recorded with “plaque and gingival index”, respectively. Statistical analysis was carried out by using Statistical-Package-for-the-Social-Sciences-Version-20.0. Of all groups, 54% were found to have no regular teeth brushing habits; 21 patients (77.8%) had initial or cavitated dental caries according to ICDAS–II–index-system. There are various oral mucosal lesions (aphthous lesions, dry chipped lips, angular cheilitis , leukoplakia , hairy and geographic tongue) and dental abnormalities (microdontia, taurodontism , rotation, ankylosis , hypoplastic teeth, germ deficiency, cingulum hypertropia , dens invaginatus , pulp stones) were detected. Extensive dental caries, gingival inflammation and inadequate oral hygiene status, showed the necessity of early dental visits. Adopting regular dental counseling as part of the multi-disciplinary team approach for patients with IBMFS is necessary to ensure better general and oral health. • Patients with IBMFS had highly dental caries. • Patients had gingival inflammation and inadequate oral hygiene status. • It is highly recommended adopting the regular dental counseling as part of the multidisciplinary team approach for patients with IBMFS to ensure better general and oral health.

Age-specific associations with dental caries in HIV-infected, exposed but uninfected and HIV-unexposed uninfected children in Nigeria

BackgroundHIV infection and its management confer a substantial health burden to affected individuals and have been associated with increased risk of oral and dental diseases. In this study, we sought to quantify HIV-associated differences in the prevalence and severity of dental caries in the primary and permanent dentition of 4–11-year-old Nigerian Children.MethodsWe used clinical, laboratory, demographic, and behavioral data obtained from an ongoing cohort study of age-matched HIV-infected (HI, n = 181), HIV-exposed-but-uninfected (HEU, n = 177), and HIV-unexposed-and-uninfected (HUU, n = 186) children. Measures of dental caries experience (i.e., prevalence and severity) were based on dmft/DMFT indices recorded by trained and calibrated clinical examiners. Differences in primary and permanent dentition caries experience between HI, HEU, and HUU were estimated using multivariable logistic and negative binomial regression modeling.ResultsHI children had significantly higher caries experience (33%) compared to HEU (15%) and HUU (22%) children. This difference persisted in fully adjusted analyses [odds ratio (OR) = 1.6; 95% confidence interval (CI) = 1.0–2.6], was most pronounced in the permanent dentition (OR = 3.4; 95% CI = 1.2–9.5), and mirrored differences in caries severity. While molars were predominantly affected in both primary and permanent dentitions, caries lesion patterns differed between dentitions. Caries severity was significantly associated with hypoplastic primary teeth, gingival inflammation, and lower CD4 counts.ConclusionsWe found that the higher prevalence and severity of dental caries among HI children was driven by increased burden of permanent dentition caries compared to their uninfected counterparts. The dentition-specific associations identified in this study highlight the need to design and implement age-specific caries prevention strategies. These may include intensified oral hygiene regimens aimed at mitigating the cariogenic impact of hyposalivation among HI children. Similarly, the long-lasting impacts of developmental defects of the enamel in the primary and permanent dentitions must not be ignored.

Dental Anomalies in Parry-Romberg Syndrome: A 40-Year Retrospective Review.

This study investigates crown and root anomalies in patients with Parry-Romberg Syndrome. This is a retrospective review of patients with Parry-Romberg Syndrome who were evaluated at a tertiary care center from 1980-2020. Patients seen in the dental unit from 1980-2020. Seventeen patients with documented Parry-Romberg Syndrome were referred for dental evaluation. All dental anomalies were documented. Root anomalies were assessed using panoramic radiographs and cone beam CT (CBCT) scans to evaluate buccal-lingual, mesio-distal, and axial measurements of hypoplastic teeth, which were compared to those of contralateral teeth. Findings included agenesis (29%, n = 5), hypoplastic teeth (29%, n = 5), delayed canine eruption (24%, n = 4), and mulberry molars (12%, n = 2). Of the five patients with tooth hypoplasia, four had CBCT records and the fifth had panoramic radiographs available for assessment. Axial length was always shorter in hypoplastic teeth relative to contralateral teeth, with differences ranging from 1.2-9.2 mm. Differences in crown size of hypoplastic versus contralateral teeth were unpredictable but always present. Patients with Parry-Romberg Syndrome can have hypoplastic roots with atypical crown morphology. A patient's specific dental anomaly will influence planning and treatment.

Determination of craniofacial and dental characteristics of individuals with Williams-Beuren syndrome by using 3D facial scans and radiographs.

Williams-Beuren syndrome (WBS) is caused by a microdeletion on chromosome 7q11-23 and clusters a variety of systemic affectations. To investigate whether 3D facial scans can detect WBS by objectively addressing their craniofacial, skeletal and dental characteristics, compared with those of a non-affected control group. 3D facial surface scans of 17 WBS individuals and 33 normal developing patients were analysed. Additionally, cephalometric and panoramic radiographs of subjects with WBS were compared with those of non-affected individuals. The 3D surface scans showed significant facial differences around the nose and mouth area. The cephalometric aspects of individuals with WBS differed mainly at the lower incisor region. Additionally, hypoplastic tooth morphology seems to be more often present in WBS. 3D images are a non-invasive, efficient method to observe facial anomalies and facilitate an early diagnosis of WBS. Additionally, the analysis of the cephalometric and panoramic images revealed significant differences in dental characteristics. Together with early diagnosis through 3D images, these can help in the establishment of adequate medical, dental and orthodontic treatment planning.

Shear bond strength of resin modified glass ionomer cement following photodynamic therapy, Er,Cr:YSGG and chlorhexidine in hypoplastic primary teeth

PurposeThis study investigates the micro shear bond strength of resin-modified glass ionomer cement (RMGIC) bonded to hypoplastic teeth after the application of chlorhexidine (CHX), sodium hypochlorite (NaOCl), Er;Cr:YSGG and methylene blue mediated antimicrobial photodynamic therapy (APDT). MethodsA total sample of 60 erupted and extracted hypoplastic teeth collected from < 16 years children were subjected to different conditioning protocols including control group that involved bonding of hypoplastic teeth with RMGIC; CHX and NaOCl groups that included hypoplastic enamel being treated with 0.2% CHX and 2% NaOCl solution for 30 s followed by rinsing and drying for 5 s, MB–PDT group involved methylene blue photosensitizer and Er,Cr:YSGG group. All specimens were processed for microshear bond strength in a universal tester. The fractured surface was examined using a stereomicroscope at 40 × magnification and categorized under adhesive, cohesive and mixed. ResultsThe highest microshear bond strength was noted for the control group (∼29 MPa). Whereas the specimens conditioned by NaOCl showed the lowest microshear bond strength (∼17 MPa). Among the treatment groups, APDT showed the highest bond strength values (∼22 MPa) as compared to chemical disinfection protocols. However, Er, Cr:YSGG showed slightly lower microshear bond strength as compared to APDT. No significant difference was noted between CHX and NaOCl groups (p > 0.05). There was a statistically significant difference when all the groups were compared together (p < 0.05). Microscopic analysis revealed that specimens bonded after APDT showed the highest adhesive failures (70%). The highest cohesive failures were seen in NaOCl group (40%). The mixed type of failures was seen in the control groups with none appearing for chemical disinfection protocols. ConclusionsThis study concludes that APDT could be a potential therapeutic strategy for increasing the microshear bond strength of RMGIC to hypoplastic enamel.

Rehabilitation of mutilated dentition associated with amelogenesis imperfecta

This clinical case report describes the oral rehabilitation of a young male with hypoplastic Amelogenesis Imperfecta with generalized hypoplastic and pitted teeth. All the teeth showed yellowish brown discoloration with rough irregular crowns. Patient was a young male who dissatisfied with his appearance and his condition degraded his confidence and psychology. Numerous treatment modalitieshave been described for rehabilitation of AI patient but the limitations in the treatment exists and the application of techniques are not universal The main objective of this selected treatment was to enhance the esthetics, restore masticatory function and eliminate the teeth sensitivity. These treatment objectives were successfully met by sequential approach. Treatment not only restored function andesthetic, but also showed a positive psychological impact and thereby improved perceived quality of life.

Ellis–van creveld syndrome: A rare autosomal recessive genetic disorder

Ellis–van Creveld syndrome is a rare genetic disorder with autosomal recessive inheritance, mainly affecting the Amish population living in Pennsylvania, USA, with an incidence of 1:244,000 for the general population. This syndrome consists of characteristic features such as bilateral postaxial polydactyly, chondroectodermal dysplasia, congenital heart defects, and hypoplastic nails and teeth. There have been few case reports of this syndrome published mainly in dental literature. We report a case of a 40-year-old male presenting with typical features of this syndrome.

Sonrisa mejorada por carillas dentales - Reporte de un caso

Ceramic veneers have evolved in the last few years as an aesthetic restoration in the field of aesthetic dentistry. It is a conservative option as compared to full coverage crowns for improving the patients smile. Ceramic veneers are widely used for smile designing in patients with fluorosis, midline diastema, hypoplastic teeth, and peg shape laterals. Clinical relevance: This article highlights the smile designing of a young patient with fluorosis using ceramic veneers, which not only improves the smile of the patient but has positive psychological benefits.

A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families.

Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising from the abnormal development of ectoderm derived structures, including skin, hair, nails, teeth and glands. These patients have sparse hair on the whole body, including the scalp, as well as hypoplastic teeth. They have no resistance to heat as a result of abnormal sweat glands. In total, four genes, namely ectodysplasin A (EDA), ectodysplasin A receptor (EDAR), EDAR-associated death domain protein (EDARADD) and Wnt family member 10A (WNT10A), are known to be involved in the etiology of HED. In the present study, we investigated two consanguineous Kashmiri families (A &B) with an autosomal recessive form of HED. Using whole exome sequencing and different bioinformatics tools, we detected a recurrent mutation causing severe HED. We identified an already known rare homozygous missense (NM_022336 c.1300T>C; p.W434R; minor allele frequency 0.00007) variant in exon 12 of the EDAR gene. This variant segregated with a homozygous form in all patients and their obligate carriers were heterozygous. A panel of >100 unrelated ethnically matched controls was screened, and the mutation was not identified outside the families. Furthermore, the candidate variant is predicted to be damaging by in silico software giving a CADD (Combined Annotation Dependent Depletion) score of 25.5, which indicates that the variant is among the top 1% of the deleterious variants in the human genome. The identification of the same homozygous mutation segregating with disease in two different families supports the important role of the gene in the development of the disorder and this may contribute to novel approaches, prenatal diagnosis and genetic counseling of families with EDAR related disorders.

Composite onlay: an option for the restoration of hypoplastic teeth in paediatric dentistry

Composite onlay: an option for the restoration of hypoplastic teeth in paediatric dentistry

Ellis–van creveld syndrome: A rare case report

Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disease, with an incidence of 1:244,000 for the general population. The exact prevalence of this syndrome is unknown but believed to be a genetic chromosomal disorder with a higher incidence in women. EVC syndrome consists of a tetrad of principal features: chondroectodermal dysplasia, polydactyly, congenital heart defects, and hypoplastic nails and teeth. In this syndrome, many other organs can be compromised with multiple oral manifestations of hard and soft tissues, but dental literature on the subject is scarce. Hence, we report a case of a patient, visiting Maratha Mandal's NGH Institute of Dental Sciences and Research Centre, Belgaum, seeking dental treatment presenting the typical features of EVC syndrome.

Hyper‐spectral Raman imaging correlating chemical substitution and crystallinity in biogenic hydroxyapatite: Dentin and enamel in normal and hypoplastic human teeth

AbstractMicro‐Raman imaging and spectroscopy has become an established technique for the characterization of biogenic hydroxyapatite as, for example, the primary constituent of human teeth. However, few studies have yet gone beyond a qualitative analysis of the Raman response providing only limited insight into spatial heterogeneity of composition, structure, and degree of crystallinity. Here, we show how correlative electron microprobe and extended hyperspectral Raman imaging with high spatial and spectral resolution, with peak position and linewidth analysis, and from the μm to mm scale, provides insight into structural characteristics in dentin and enamel. From comparison of healthy and hypoplastic teeth as a representative tooth disease example, we determine variations in degree of crystallinity, both locally across the dentin–enamel junction, and with distinct long‐range spatial variations. We identify a correlation of spectral peak position and linewidth as a measure of crystal lattice disorder across tubules, dentin, dentin–enamel junction, and enamel. This correlative Raman imaging and analysis approach may help to provide a better understanding of apatite geochemistry and biomineralization.

Mineral features of connective dental hard tissues in hypoplastic amelogenesis imperfecta.

To explore the mineral features of dentin and cementum in hypoplastic Amelogenesis imperfecta AI teeth. Forty-four (44) teeth cleaned and free of caries were used: 20 control and 24 affected by hypoplastic amelogenesis imperfecta. Thirty-two teeth were studied by pQCT, cut in sections, and analyzed under microradiography, polarized light microscopy, and confocal Raman spectroscopy. Eight teeth were observed under scanning electron microscope. Four teeth were used for an X-ray diffraction. The mineral density data were analyzed statistically with the Mann-Whitney U test, using GraphPad InStat software. Both coronal dentin and radicular dentin were less mineralized in AI teeth when compared to control (respectively 6.2% and 6.8%; p<.001). Root dentinal walls were thin and irregular, while the cellular cementum layers were thick, reaching sometimes the cervical region of the tooth. Regular dentinal tubules and sclerotic dentin areas were noticed. Partially tubular or cellular dysplastic dentin and hyper-, normo-, or hypomineralized areas were noticed in the inter-radicular areas of hypoplastic AI teeth. The main mineral component was carbonate hydroxyapatite as explored by Raman spectroscopy and X-ray diffraction. Dentin and cementum in hypoplastic AI teeth are (i) hypomineralized, (ii) constituted of carbonate hydroxyapatite, and (iii) of non-homogenous structure.

Enamel biorhythms of humans and great apes: the Havers-Halberg Oscillation hypothesis reconsidered.

The Havers-Halberg Oscillation (HHO) hypothesis links evidence for the timing of a biorhythm retained in permanent tooth enamel (Retzius periodicity) to adult body mass and life history traits across mammals. Potentially, these links provide a way to access life history of fossil species from teeth. Recently we assessed intra-specific predictions of the HHO on human children. We reported Retzius periodicity (RP) corresponded with enamel thickness, and cusp formation time, when calculated from isolated deciduous teeth. We proposed the biorhythm might not remain constant within an individual. Here, we test our findings. RP is compared between deciduous second and permanent first molars within the maxillae of four human children. Following this, we report the first RPs for deciduous teeth from modern great apes (n=4), and compare these with new data for permanent teeth (n=18) from these species, as well as with previously published values. We also explore RP in teeth that retain hypoplastic defects. Results show RP changed within the maxilla of each child, from thinner to thicker enameled molars, and from one side of a hypoplastic defect to the other. When considered alongside correlations between RP and cusp formation time, these observations provide further evidence that RP is associated with enamel growth processes and does not always remain constant within an individual. RP of 5days for great ape deciduous teeth lay below the lowermost range of those from permanent teeth of modern orangutan and gorilla, and within the lowermost range of RPs from chimpanzee permanent teeth. Our data suggest associations between RP and enamel growth processes of humans might extend to great apes. These findings provide a new framework from which to develop the HHO hypothesis, which can incorporate enamel growth along with other physiological systems. Applications of the HHO to fossil teeth should avoid transferring RP between deciduous and permanent enamel, or including hypoplastic teeth.

Prosthetic Rehabilitation of a Patient with Ectodermal Dysplasia

ABSTRACTEctodermal dysplasia (ED) is a rare group of inherited disorders characterized by aplasia or dysplasia of two or more tissues of ectodermal origin, such as hair, nails, teeth, and skin. The dental characteristics of this syndrome include anodontia or hypodontia of the primary and/or permanent teeth, hypoplastic conical teeth, and underdevelopment of the alveolar ridges. Patients with ED have psychosocial issues due to the orofacial manifestations; therefore, restoring appearance and function is more challenging than usual. The options for a definitive treatment plan include removable, fixed, or implant-supported prostheses, single or in combination. This clinical report describes the prosthetic rehabilitation of a patient having ED.How to cite this articleNadgere JB, Parmar BA, Ram SM, Shah NP. Prosthetic Rehabilitation of a Patient with Ectodermal Dysplasia. J Contemp Dent 2016;6(3):214-219.

Immediate Overlay Removable Partial Dentures for a Patient with Ectodermal Dysplasia: A Clinical Report

Ectodermal dysplasia has several characteristic signs and symptoms, including anadontia or hypodontia, conical and hypoplastic teeth, atrophic alveolar ridges, protuberant lips, and hypotrichosis. Definitive treatment options for these patients are several including fixed, removable or implant-supported prostheses. Economic limitations or other priorities can prevent patients from choosing the most desirable treatment. This clinical report describes the prosthetic rehabilitation of a patient with ectodermal dysplasia. The treatment developed an overlay immediate removable partial denture fabricated to reconstruct acceptable occlusal vertical dimension, function and esthetics. A 2-year period of follow up showed the minor chipping of composite layer on the metal substructure. Keywords: Ectodermal dysplasia, mouth rehabilitation

Characterization of the nanoscratch, microstructure, and composition in hypoplastic amelogenesis imperfecta

Hypoplastic amelogenesis imperfecta is a widespread hereditary disease that causes the loss of enamel. The purpose of this study was to investigate the nanoscratch resistance of hypoplastic amelogenesis imperfecta for providing a reference for restorative treatment. Four unerupted third molars from a patient diagnosed with hypoplastic amelogenesis imperfecta and seven unerupted third molars from normal individuals were compared. Atomic force microscopy and energy-dispersive X-ray spectroscopy were used to observe the microstructure and composition of the teeth (enamel and dentin). The nanoscratch tests of teeth (enamel and dentin) were investigated using a nanoscratch tester, scanning electron microscopy, and a stylus profilometer. The results indicated that hypoplastic amelogenesis imperfecta teeth had different microstructures compared to normal teeth. Hypoplastic amelogenesis imperfecta demonstrated a higher composition of organic substance. Meanwhile, the friction coefficient of hypoplastic amelogenesis imperfecta was higher than that of normal teeth, and inferior frictional resistance of hypoplastic amelogenesis imperfecta teeth was observed. The main damaging mechanisms observed in hypoplastic amelogenesis imperfecta under nanoscratch were the combination of delamination, debris, and cracks in enamel with delamination, debris, and plastic deformation in dentin. Our findings suggested that new dental restorative materials should be selected to match the mechanical properties of hypoplastic amelogenesis imperfecta.

A rare case report of Ellis Van Creveld syndrome in an Indian patient and literature review

Ellis Van Creveld syndrome (EVC) is a rare genetic disorder having autosomal recessive inheritance affecting the Amish population of Pennsylvania in USA with incidence of 1:244,000 for the general population. This syndrome consists of characteristic features such as bilateral postaxial polydactyly, chondroectodermal dysplasia, congenital heart defects and hypoplastic nails and teeth. There are few case reports of this syndrome reported in dental literature. We report a case of a 17 year old female presenting typical features of this syndrome and the oral findings of this patient which are the key diagnostic features.