Enamel Hypoplasia Research Articles

Axenfeld-Rieger Syndrome (ARS): A Case Report

Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant condition manifesting as a heterogeneous group of features. Of particular note are the ocular and craniofacial anomalies and dental features such as hypodontia, microdontia, taurodontism, enamel hypoplasia, conical-shaped teeth, shortened roots and delayed eruption. We report the case of a 23 years old female patient, who presented to the ophthalmology department for a routine eye chek-up. The ophthalmological examination showed vertical cup-to-disc ratio of 0,6 in the right eye and 0,7 in the left eye with normal intra ocular pressure. On general examination, she had maxillary hypoplasia, broad nasal bridge, oligodontia and microdontia.

The role of developmental factors in hypoplasia of deciduous teeth and treatment specifics in pediatric dental practice

Relevance. Congenital and systemic diseases can lead to developmental errors in the enamel organ, resulting in anomalies such as enamel hypoplasia. The high prevalence of these defects illustrates the vulnerability of teeth to changes in the intrauterine and postnatal environments. Enamel hypoplasia contributes to the development of caries and tooth wear by making enamel thinner, more retentive to dental plaque, and less resistant to acid degradation compared to normal enamel. Surfaces of the affected hard tissues are smooth and exhibit a symmetric distribution pattern. The occurrence of enamel hypoplasia in children is a significant factor in the development of caries; thus, they require comprehensive treatment and ongoing preventive care by a pediatric dentist.Purpose. To analyze the impact of factors contributing to the development of deciduous teeth hypoplasia in children, on the frequency of this condition and the specifics of its treatment by a pediatric dentist.Materials and Methods. The study involved the examination and treatment of children aged 4-12 at the Dental and Implantology Department of Kazan (Volga Region) Federal University over a 12-month period. Out of 972 children, 67 were diagnosed with systemic enamel hypoplasia. A questionnaire was developed for statistical research, and data were processed using Statistica 7.0 software Statistica 7.0 (StatSoft, США).Results. The survey revealed chronic diseases in 16.42% of mothers. During pregnancy, 68.6% of the mothers visited a dentist once, and 31.3% visited two to three times. Most mothers experienced early pregnancy toxemia—67% in the first half and 58.2% in the second half of the pregnancy. Additionally, 50.7% suffered from acute respiratory viral infections and influenza, and 25.4% had gastrointestinal diseases. Feeding practices involved breastfeeding in 68.7% of cases and artificial feeding in 31.3% (up to 3 months – 16.4%, up to 1 year – 64.1%, up to 2 years – 19.4%). Examination of the oral cavity in 67 children with systemic hypoplasia revealed a spotted form in 79.1% of cases and a purely destructive form in 20.9% of cases. Contemporary conservative dentistry emphasizes minimally invasive approaches to the treatment of such dental defects.Conclusion. The study of deciduous tooth hypoplasia in children highlighted the importance of the health status of the expectant mother and timely sanitation of the oral cavity. Particular attention should be paid to maternal infectious diseases, specifically influenza and ARVI. The findings underscore the need for preventive measures against temporary tooth hypoplasia from the onset of pregnancy planning to enhance the dental well-being of children.

Insights into medieval rural lives: A paleo-odontological investigation of two central European communities

ObjectiveOral status is an important indicator of past lifestyles. Determining the presence and extent of oral pathologies helps reconstruct average oral health, paramasticatory activities and diet of ancient and historical populations. DesignIn this study, the dental remains from the early medieval cemetery of Früebergstrasse in Baar (Canton of Zug, Switzerland) and the high medieval Dalheim cemetery (North Rhine-Westphalia, Germany) were analyzed. Caries, periodontal condition, periapical lesions, antemortem tooth loss, and enamel hypoplasia were assessed in 654 teeth (993 observable loci) from 68 individuals (Baar: n = 36; Dalheim: n = 32). ResultsThe oral status of both populations was affected by age with higher values of tooth wear in advanced age individuals. High tooth wear values in both populations point towards the consumption of abrasive foods. Pronounced anterior tooth wear in Baar may also be due to non-masticatory tooth usage. Finally, possible nutritional deficiencies were hypothesized for the Baar population. A higher caries prevalence was observed in the Baar group, probably due to differences in carbohydrate intake. The oral conditions observed in the two studied populations exhibited several analogies, suggesting comparable lifestyles despite their separation in space and time. The only differences observed are related to the use of teeth as “tools” and are thus determined by behavioral choices rather than diverse socioeconomic factors. ConclusionsUsing multiple dental parameters to examine the oral health of premodern individuals can provide useful insights into the interactions between humans and their environment, from dietary patterns to paramasticatory activities.

The urban sea: Cribra orbitalia, porotic hyperostosis, linear enamel hypoplasia, and sinusitis in three diachronic urban sites from the Dutch province of Zeeland (1030–1800 CE)

AbstractUntil the 17th century, the Dutch coastal region of Zeeland ranked among Europe's most urbanized areas, driven by thriving international trade networks. People living in this time of flourishing economy benefitted enormously from it in terms of employment opportunities and working conditions, which were reportedly better than in the rest of the Low Countries. However, the rapid growth of Zeeland's urban centers likely presented increasing challenges for the population in terms of accessing essential resources, including food, clean water, and housing. In the 19th century, Zeeland's economy ultimately faced a significant downturn due to the decline in the maritime trade, leading to a substantial reduction in its urban population. Examining patterns of urbanization and economic histories that differ from the commonly studied thriving industrial contexts in bioarcheological research, as exemplified by Zeeland, is a crucial yet relatively underexplored facet in our efforts to understanding the human past. To address this gap, this study investigates the impact of urbanization on the health of Zeeland's inhabitants over time by analyzing nonspecific stress markers (i.e., cribra orbitalia, porotic hyperostosis, and linear enamel hypoplasia) and chronic maxillary sinusitis in a sample of 246 individuals from three urban sites dating from 1030 to 1800 CE. Our analysis of skeletal remains reveals significant differences in the prevalence of porotic hyperostosis, linear enamel hypoplasia, and sinusitis between the medieval and post‐medieval periods. These findings suggest that de‐urbanization and economic decline adversely affected the health and well‐being of the populations under study, influenced by factors such as working conditions and food availability. This study provides a new perspective on bioarcheological approaches to urbanization, shedding light on the intricate realities of urbanization in Zeeland and offering important insights into its complexities.

Physiological stress in a Hellenistic-early Roman community in Sicily

This paper explores physiological stress patterns in the Hellenistic/early Roman settlement of Menainon, Sicily. A skeletal assemblage dating from the 4th to the 1st c. BCE was examined for cribra orbitalia, porotic hyperostosis, periostitis, and enamel hypoplasia, while the biological index of frailty (BIF), which measures morbidity, was estimated using these biomarkers in conjunction with trauma, mechanical stress, stature and body mass data. The results showed a higher frequency of cribra orbitalia, porotic hyperostosis, and enamel hypoplasia in male individuals, likely supporting greater stress in males earlier in life. In contrast, females were affected mostly by periostitis but the lesions were generally remodeled. BIF values were overall higher in males in all age groups but showed a steady decline throughout adulthood, whereas female morbidity peaked in middle adulthood. Taken together, these patterns suggest a differential exposure of males and females to physiological stress at different points in their lifetime, though this pattern rarely reached statistical significance and it did not affect the mortality patterns in either sex. When compared to other assemblages, cribra orbitalia and periostitis were particularly common in Menainon, porotic hyperostosis showed an average frequency, while enamel hypoplasia was rare. The interpretation of these patterns is complicated by the diverse social and cultural background of the comparative assemblages. Further research, focused on diet, mobility, mechanical stress and other aspects of the life of the Menainon population, could offer a better understanding of the above results. However, the current study highlights the context-specific nature of physiological stress and the necessity to not rely exclusively on textual evidence regarding past gender roles and associated living conditions.

An Investigation into the Prevalence of Enamel Hypoplasia in an Urban Area Based on the Types and Affected Teeth.

In total, 234 children of both sexes aged 8-12 years old were randomly selected in five schools in Tirana, Albania. They underwent an intra-oral examination. Diagnostic criteria were in accordance with a European meeting on MIH held in Athens, 2003, and the FDI. Medical history was retrieved using questionnaires, and data obtained from clinical examination were recorded. The prevalence of enamel hypoplasia was 12.8%. The most commonly occurring enamel hypoplasia was the mild type (58.62%). The mandibular first molar showed the highest prevalence of enamel hypoplasia (19.5%), and the maxillary canines and premolars were the least affected (2.3%). In this study, medical story did not have a significant effect on enamel hypoplasia. The prevalence of enamel hypoplasia remains high at 12.8%. Interestingly, the features of enamel hypoplasia were consistent across both sexes, with no correlation found between them. The predominant occurrence of mild enamel hypoplasia underscores the importance of implementing oral hygiene strategies in schools to mitigate its progression.

Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion

PurposeDeficiency of stromal interaction molecule 1 (STIM1) results in combined immunodeficiency accompanied by extra-immunological findings like enamel defects and myopathy. We here studied a patient with a STIM1 loss-of-function mutation who presented with severe lymphoproliferation. We sought to explore the efficacy of the mTOR inhibitor rapamycin in controlling disease manifestations and reversing aberrant T-cell subsets and functions, which has never been used previously in this disorder.MethodsClinical findings of the patient were collected over time. We performed immunological evaluations before and after initiation of rapamycin treatment, including detailed lymphocyte subset analyses, alterations in frequencies of circulating T follicular helper (cTFH) and regulatory T (Treg) cells and their subtypes as well as T cell activation and proliferation capacities.ResultsA novel homozygous exon 2 deletion in STIM1 was detected in a 3-year-old girl with severe lymphoproliferation, recurrent infections, myopathy, iris hypoplasia, and enamel hypoplasia. Lymphoproliferation was associated with severe T-cell infiltrates. The deletion resulted in a complete loss of protein expression, associated with a lack of store-operated calcium entry response, defective T-cell activation, proliferation, and cytokine production. Interestingly, patient blood contained fewer cTFH and increased circulating follicular regulatory (cTFR) cells. Abnormal skewing towards TH2-like responses in certain T-cell subpopulations like cTFH, non-cTFH memory T-helper, and Treg cells was associated with increased eosinophil numbers and serum IgE levels. Treatment with rapamycin controlled lymphoproliferation, improved T-cell activation and proliferation capacities, reversed T-cell responses, and repressed high IgE levels and eosinophilia.ConclusionsThis study enhances our understanding of STIM1 deficiency by uncovering additional abnormal T-cell responses, and reveals for the first time the potential therapeutic utility of rapamycin for this disorder.

Zuurberg (Eastern Cape, South Africa) revisited: human remains, dating and archaeological findings

ABSTRACT The Later Stone Age (LSA) site of Zuurberg in the Cape Fold Mountains of South Africa was excavated in the 1920s by F.W. FitzSimons. As with his other excavations, not much is known about the exact provenance and detailed archaeological context of the remains. This paper reports the re-analysis and dating of the human skeletal remains from Zuurberg. The remains were commingled but here sorted according to previously published sources. The remains of eight individuals are present, of which only one (Zg3) is fairly complete. The assemblage includes four older adults, two younger or middle-aged adults, an adolescent and a child. Two of the three individuals who could be assessed showed signs of enamel hypoplasia, which probably attests to some hardship. One of the individuals was dated to 4795 ± 42 BP (Ua-61976), which places this site into the Wilton period of the South African LSA. However, the different levels of burials, as well as the presence of potsherds, may suggest an extended use of the site. Isotopic analysis suggests a mixed diet, which was not depleted of protein. The reassessment, sorting and dating of these remains add value to the collection, especially as they come from an open-air, non-coastal forager site. This assemblage can now be included in future studies of southern African Stone Age foragers.

Regenerative Endodontic Procedures in Immature Teeth Affected by Regional Odontodysplasia

IntroductionRegional odontodysplasia (ROD) is a rare developmental disorder characterized by hypo-mineralization and hypoplasia of enamel and dentin. Symptoms include poorly developed tooth buds, delayed eruption of permanent teeth in affected quadrants, and ghost teeth. The affected teeth often become necrotic due to abnormal enamel and dentin development, making them susceptible to caries and infection. The aim of this case report is to describe the treatment of ROD through pulp revascularization. Case reportA 13-year-old girl was referred for endodontic treatment. The mandibular left incisors and first premolar, which were affected by regional odontodysplasia, lost their vitality because of the impaired structure of the enamel. Due to the teeth's early developmental stage, a regenerative endodontic treatment was attempted. All 3 teeth were treated using the same protocol following the AAE guidelines. After 4 weeks, treatment of the premolar was completed, whereas the incisor teeth remained symptomatic and were and therefore, intracanal dressing with calcium hydroxide was repeated and left in place for 5 months. Finally, the regenerative procedure was completed, and the crowns were restored. The patient was scheduled for follow-up examinations after 6 months, and then yearly for the next 3 years. After 1 year, the periapical lesion around the central incisor and premolar had resolved, the lesion around the apex of the lateral incisor was healing, and the roots had continued to develop. After 3 years, complete healing and pulp canal obliteration were observed in the central incisor and in the premolar. However, the root of the lateral incisor tooth was split, and it was recommended to extract this tooth. ConclusionThe positive outcomes of regenerative endodontics in the central incisor and premolar suggest that revascularization of the pulp may be optional for the treatment of immature necrotic teeth affected by developmental disorders, such as ROD, amelogenesis imperfecta, or dentinogenesis imperfecta.

Dental and Periodontal Findings in Hemodialysis Patients

Abstract Background: End-stage renal disease (ESRD) are more to infections due to their decrease in immune systems and general debilitated health, most of patients with renal failure showing oral symptoms. Objectives: The aim of this study is to assessment the kind and severity of oral symptoms in ESRD patients undergoing hemodialysis and compare these results with healthy, disease-free persons. Materials and Methods: The study involved 40 individuals, comprising 20 hemodialysis patients and 20 healthy control. The patient group was randomly chosen from ESRD patients, while the control group consisted of disease-free persons with normal glomerular filtration rates. The symptoms such as dry mouth, taste changes, halitosis, and mucosal pain, and were oral changes like tongue coating, pallor, ulceration, and enamel hypoplasia. Results: The ESRD patients established significantly more oral changes compared to the control group. These due to metabolic disorders caused by renal failure. Conclusion: there is significant impact of ESRD on the oral health of the patients, with correlation between oral health and ESRD.

Is Italian Dentists’ Knowledge of Enamel Development Defects Adequate? A Nationwide Survey

ObjectivesCorrect identification and management of Developmental Defects of Enamel (DDEs) are essential to provide the best possible treatment. The present survey aims to investigate Italian dentists’ knowledge of DDEs, their ability to recognise the different clinical pictures, and to choose the most appropriate clinical approach. MethodsA cross-sectional survey was planned based on a questionnaire including 27 closed-ended questions, and that proposed 4 clinical pictures, molar incisor hypomineralisation (MIH), amelogenesis imperfecta (AI), dental fluorosis (DF), and an initial caries lesion (ICL). It was distributed by e-mail to all Italian dentists (N = 63,883) through the Italian Federation of Doctors and Dentists. Discrete variables were expressed as absolute and relative frequencies (%). A multivariate analysis assessed whether socio-demographic variables correlated with the answers’ truthfulness. ResultsAbout 5017 questionnaires were included and analysed. Although 90.19% of the sample stated that they had received information on DDEs, a significant percentage did not recognise MIH (36.36%), AI (48.34%), DF (71.50%), and ICL (46.62%). Only 57.07% correctly classified enamel hypomineralisation as a qualitative defect, and even fewer, 54.45%, classified enamel hypoplasia as a quantitative defect. According to the logistic regressions, female dentists, dentists who treat mainly children and received information about DDEs, were more likely to recognise the 4 clinical pictures (P < .01). ConclusionsItalian dentists showed many knowledge gaps on DDEs that need to be filled; those who received formal training were more capable of correctly identifying the defects and were more likely to prescribe an appropriate management approach for the defects. Clinical significanceIncreasing university courses and continuing education on diagnosing and managing DDEs seems reasonable to fill the knowledge gap on DDEs.

The oral phenotype and dental management in patients with maple syrup urine disease; case report and scoping review

Background and objectivesThe literature about oral manifestations and dental management in maple syrup urine disease (MSUD) is sparse. The aim of this report is to present a new case of MSUD with special emphasis on oral findings and to review the relevant literature.MethodA case report of a 4-year-old boy with MSUD was described according to the CARE guidelines for describing case reports. Scoping review of relevant literature was performed, according to the PRISMA-ScR guidelines, by searching PubMed, Medline, Embase, and the grey literature for articles describing dental management and/or oral manifestations in MSUD.ResultsThe initial search identified 219 articles, but only 4 met the inclusion criteria. Rampant caries and plaque induced gingivitis were the main oro-dental findings in MSUD. Other oral findings included enamel hypoplasia, skeletal abnormalities, and abnormal oral behaviors. Disease-related factors appeared to play a major role in the development of the observed oral phenotype.ConclusionOral health in MSUD seems to be influenced by the reliance on semi-synthetic diet and associated neurocognitive complications. Tailored oral health promotional interventions should be included in the multidisciplinary management of patients with MSUD.

Early recognition of the APECED rash can accelerate the diagnosis of APECED

Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) is a monogenic autoimmune disease most often resulting from biallelic loss-of-function variants in the autoimmune regulator (AIRE) gene. Although typically characterized by the classic triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency, we have recently reported that the clinical spectrum of the syndrome is far broader that previously described and that incorporation of an adjunct triad of APECED rash, autoimmune enteritis-associated intestinal dysfunction, and enamel hypoplasia in the classic triad manifestations could lead to earlier diagnosis. Among the adjunct triad manifestations, APECED rash occurs in 66 % of American APECED patients by age 3, most often developing in the first year of life. Here, we describe the clinical and histological features of protracted APECED rash manifesting together with recurrent mucocutaneous candidiasis as the first two disease components of APECED in a 10-month-old girl.

Linear enamel hypoplasia in Homo naledi reappraised in light of new Retzius periodicities.

Among low-latitude apes, developmental defects of enamel often recur twice yearly, linkable to environmental cycles. Surprisingly, teeth of Homo naledi from Rising Star in South Africa (241-335 kya), a higher latitude site with today a single rainy season, also exhibit bimodally distributed hypoplastic enamel defects, but with uncertain timing and etiology. Newly determined Retzius periodicities for enamel formation in this taxon enable a reconstruction of the temporal patterning of childhood stress. Using high resolution casts of 31 isolated anterior teeth from H. naledi, 82 enamel defects (linear enamel hypoplasia [LEH]) were identified. Seventeen teeth are assigned to three individuals. Perikymata in the occlusal wall of enamel furrows and between the onsets of successive LEH were visualized with scanning electron microscopy and counted. Defects were measured with an optical scanner. Conversion of perikymata counts to estimates of LEH duration and inter-LEH interval draws upon Retzius periodicities of 9 and 11 days. Anterior teeth record more than a year of developmental distress, expressed as two asymmetric intervals centered on 4.5 and 7.5 months bounded by three LEH. Durations, also, show bimodal distributions, lasting 3 or 12 weeks. Short duration LEH are more severe than long duration. Relative incisor/canine rates of formation are indistinguishable from modern humans. We invoke a disease and dearth model, with short episodes of distress reflecting onset of disease in young infants, lasting about 3 weeks, followed by a season of undernutrition, possibly intensified by secondary plant compounds, spanning about 12 weeks, inferably coincident with austral winter.

The effect of Vitamin D deficiency on the occurrence of enamel hypoplasia in babies: A review article

Background: Vitamin D is a steroid prohormone that can be obtained primarily from exposure to sunlight and can also be obtained from food or supplements. Vitamin D has an important role in various metabolisms and developments in the human body, including in the process of odontogenesis or tooth development. Vitamin D deficiency can be associated with various problems in the oral cavity, in this case it has the potential to trigger enamel hypoplasia. Enamel hypoplasia is a quantitative defect in enamel, which appears as pits, grooves, missing enamel or smaller teeth. This literature study will discuss the relationship between Vitamin D concentration and dental development in early childhood. Method: The method used is an article review that was conducted by analyzing various articles on related themes on virtual platforms such as PubMed, Google Scholar, ProQuest, and Science Direct. Results: Vitamin D significantly affects the development of teeth in fetuses to babies. Conclusion: Vitamin D plays an important role in various metabolisms and development of the human body. Vitamin D deficiency can cause developmental disorders and various diseases of the oral cavity such as enamel hypoplasia.

Prevalence of Dental Anomalies in Patients with Non-syndromic Cleft Lip with or without Cleft Palate

This study aimed to assess the prevalence and distribution pattern of dental anomalies in the permanent teeth of patients with non-syndromic cleft lip with or without cleft palate. Additionally, it aimed to compare differences in dental anomalies between cleft and non-cleft areas, considering gender and cleft phenotype. Panoramic radiographs of 164 patients diagnosed with non-syndromic orofacial clefts were retrospectively analyzed by a single examiner to confirm dental anomalies. The dental anomalies investigated included tooth agenesis, supernumerary teeth, microdontia, rotation, ectopic eruption, and enamel hypoplasia. Cleft phenotypes were categorized into 7 types based on medical and dental records. A significantly higher prevalence of supernumerary teeth was observed in males than females within non-cleft areas (&lt;i&gt;p&lt;/i&gt; = 0.017), with no significant differences in other dental anomalies. In non-cleft area, patients with cleft palate exhibited a high prevalence of tooth agenesis (&lt;i&gt;p&lt;/i&gt; &lt; 0.0001) and microdontia (&lt;i&gt;p&lt;/i&gt; = 0.012) compared to other cleft phenotypes. Maxillary incisor rotation was closely associated with adjacent tooth agenesis in unilateral cleft lip and palate cases (&lt;i&gt;p&lt;/i&gt; = 0.034). This study suggests that the additional subphenotype based on dental anomalies in patients with orofacial cleft may serve as applicable clinical markers.

Life and death in the Roman period Pula – A bioanthropological analysis of human skeletal remains from the Ozad Arene site

Human skeletal and dental remains are the primary focus of bioarchaeological research, as different diseases and pathological conditions can leave marks on the bones and teeth. Study of these remains provides insights into the lifestyle, health and quality of life of past populations. In this paper, the human skeletal remains from the Ozad Arene archaeological site in Pula (Istria, Croatia), originating from 25 graves and four bone assemblages dated between the 1st and the 4th centuries CE, were analysed. The aim of the paper is to reconstruct demographic and pathological characteristics of the Roman period population from Pula to gain insight into the living conditions and the quality of life in this community, and to determine whether the site differs from other archaeological sites from the same period in terms of general health and living conditions. The human skeletal sample in question comprises skeletal remains of a minimum 48 individuals; the high subadult mortality rate and high prevalence of dental enamel hypoplasia and the presence of cribra orbitalia, porotic hyperostosis, and periostitis indicate overall poor living conditions and widespread metabolic stress during childhood in Pula. Vertebral osteoarthritis and Schmorl′s nodes in the spines of younger individuals suggest continuous hard labour and strenuous physical activity. Based on the available data, it seems that living conditions in the Roman period Pula did not differ significantly from other Roman sites on the eastern Adriatic coast.

COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient

Here, we present a Han Chinese pediatric girl highly suspected of congenial disorder of glycosylation type IIL (CDG2L; OMIM#614576). Her clinical symptoms include transferase abnormal, liver cirrhosis, hemogram, coagulopathy, growth retardation, intellectual disability, frequent infections, and enamel hypoplasia. Trio-genome sequencing identified in COG6 a paternal variant c.1672C&gt;T (p.Gln558Ter) and a maternal variant c.153+392A&gt;G (p.?). Reverse transcription-polymerase chain reaction (RT-PCR) using mRNA isolated from peripheral blood confirmed the pathogenicity of both variants. The paternal variant resulted in nonsense-mediated mRNA decay. The maternal variant generated two aberrant COG6 transcripts with 154 bp overlap and was predicted to result in a frameshift at the same position, leading to generation of a premature termination codon. They might result in synthesis of a truncated form of COG6. Thus, the patient was genetically diagnosed.

Enamel Hypoplasia among Tikrit City School Children Aged 6 Years to 13 Years Old

Enamel hypoplasia: its deficiency could be occurring when the enamel of the tooth does not form completely; this is may be due to many diseases or malnutrition. Enamel hypoplasia could be appear as horizontal lines or chain of grooves or pits over the outer surface of the tooth. The purpose of this current study was to find out the prevalence of enamel hypoplasia for the permanent and deciduous teeth in primary school children in Tikrit city, because children with enamel hypoplasia can suffer from cosmetic issues, tooth sensitivity and increased risk of dental caries. This current study is cross-sectional study was conducted through a clinical examination of teeth among 720 children of age rang (6 to 13) years enrolled in primary public schools of Tikrit city; they were accepted to participate in study after the aim of study was explained. The prevalence of enamel hypoplasia was studied in relation to age and gender. Diagnosis of enamel hypoplasia takes place by well trained dentist. The prevalence of enamel hypoplasia was founded to (6.2%); boys more affected than girls with odds ratio 1.03 and there was no statistically significant differences. The anterior teeth were the most affected teeth with enamel hypoplasia specially the upper permanent central incisor (2.9%). Developmental enamel hypoplasia has a high level of importance because of being predictors of dental caries. Children suffered from enamel hypoplasia require a preventive intervention as a priority and early treatment.

Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder

GJA1 is the causative gene for oculodentodigital dysplasia (ODDD). A novel de novo GJA1 variant, NM 000165:c263C > T [p.P88L], was identified in a mosaic state in a patient with short stature, seizures, delayed myelination, mild hearing loss, and tooth enamel hypoplasia. Although the patient exhibited severe neurodevelopmental delay, other clinical features of ODDD, including limb anomalies, were mild. This may be due to differences in the mosaic ratios in different organs.