ABSTRACT
METHODOLOGY: Gingival conditions and tooth sensitivity of young patients with amelogenesis imperfecta lack in depth studies. This case-control study aimed to compare (1) the gingival inflammation, the presence of enamel defects, and tooth sensitivity in young patients with and without amelogenesis imperfecta and (2) to investigate if any difference exists between subtypes of amelogenesis imperfecta. We compared forty-two participants with amelogenesis imperfecta with forty-two controls matched for age, gender, and the number of examined sites. Based on interview, clinical examination, and intraoral photography, we collected data on periodontal conditions, enamel defects and the presence of tooth sensitivity. Comparison tests were performed to investigate if any difference existed between cases and controls; and among cases, between the different subtypes of amelogenesis imperfecta. We performed a post-hoc analysis for any significant difference observed. RESULTS: We observed more gingival inflammation, enamel defects and tooth sensitivity among cases (all p<0.05). Participants with hypocalcified amelogenesis imperfecta had more gingival inflammation, enamel defects, and tooth sensitivity than patients with the hypoplastic and hypomature subtypes (all p<0.05). After adjustment for dental plaque, gingival inflammation was associated with the presence of amelogenesis imperfecta (OR (95%CI) = 1.14 (1.05; 1.24). p<0.01). CONCLUSION: Gingival inflammation, enamel defect and tooth sensitivity are more frequently observed among young patients with amelogenesis imperfecta, and more specifically among children with the hypocalcified subtype.
Subject(s)
Amelogenesis Imperfecta/epidemiology , Dentin Sensitivity/epidemiology , Case-Control Studies , Child , Dental Enamel , Female , Humans , Inflammation , MaleABSTRACT
BACKGROUND: Amelogenesis imperfecta (AI) is a highly heterogeneous group of hereditary developmental abnormalities which mainly affects the dental enamel during tooth development in terms of its thickness, structure, and composition. It appears both in syndromic as well as non-syndromic forms. In the affected individuals, the enamel is usually thin, soft, rough, brittle, pitted, chipped, and abraded, having reduced functional ability and aesthetics. It leads to severe complications in the patient, like early tooth loss, severe discomfort, pain, dental caries, chewing difficulties, and discoloration of teeth from yellow to yellowish-brown or creamy type. The study aimed to identify the disease-causing variant in a consanguineous family. METHODS: We recruited a consanguineous Pashtun family of Pakistani origin. Exome sequencing analysis was followed by Sanger sequencing to identify the pathogenic variant in this family. RESULTS: Clinical analysis revealed hypomaturation AI having generalized yellow-brown or creamy type of discoloration in affected members. We identified a novel nonsense sequence variant c.1192C > T (p.Gln398*) in exon-12 of SLC24A4 by using exome sequencing. Later, its co-segregation within the family was confirmed by Sanger sequencing. The human gene mutation database (HGMD, 2019) has a record of five pathogenic variants in SLC24A4, causing AI phenotype. CONCLUSION: This nonsense sequence variant c.1192C > T (p.Gln398*) is the sixth disease-causing variant in SLC24A4, which extends its mutation spectrum and confirms the role of this gene in the morphogenesis of human tooth enamel. The identified variant highlights the critical role of SLC24A4 in causing a rare AI type in humans.
Subject(s)
Amelogenesis Imperfecta/genetics , Antiporters/genetics , Dental Caries/genetics , Genetic Predisposition to Disease , Adult , Amelogenesis Imperfecta/epidemiology , Amelogenesis Imperfecta/pathology , Codon, Nonsense/genetics , Dental Caries/epidemiology , Dental Caries/pathology , Dental Enamel/metabolism , Exons/genetics , Female , Humans , Male , Morphogenesis/genetics , Pakistan/epidemiology , Pedigree , Tooth Loss/genetics , Tooth Loss/physiopathology , Exome Sequencing , Young AdultABSTRACT
Abstract Gingival conditions and tooth sensitivity of young patients with amelogenesis imperfecta lack in depth studies. This case-control study aimed to compare (1) the gingival inflammation, the presence of enamel defects, and tooth sensitivity in young patients with and without amelogenesis imperfecta and (2) to investigate if any difference exists between subtypes of amelogenesis imperfecta. Methodology We compared forty-two participants with amelogenesis imperfecta with forty-two controls matched for age, gender, and the number of examined sites. Based on interview, clinical examination, and intraoral photography, we collected data on periodontal conditions, enamel defects and the presence of tooth sensitivity. Comparison tests were performed to investigate if any difference existed between cases and controls; and among cases, between the different subtypes of amelogenesis imperfecta. We performed a post-hoc analysis for any significant difference observed. Results We observed more gingival inflammation, enamel defects and tooth sensitivity among cases (all p<0.05). Participants with hypocalcified amelogenesis imperfecta had more gingival inflammation, enamel defects, and tooth sensitivity than patients with the hypoplastic and hypomature subtypes (all p<0.05). After adjustment for dental plaque, gingival inflammation was associated with the presence of amelogenesis imperfecta (OR (95%CI) = 1.14 (1.05; 1.24). p<0.01). Conclusion Gingival inflammation, enamel defect and tooth sensitivity are more frequently observed among young patients with amelogenesis imperfecta, and more specifically among children with the hypocalcified subtype.
Subject(s)
Humans , Male , Female , Child , Dentin Sensitivity/epidemiology , Amelogenesis Imperfecta/epidemiology , Case-Control Studies , Dental Enamel , InflammationABSTRACT
Amelogenesis imperfecta (AI) is a group of enamel development disorders that alter the structure and chemical composition of the tissue. There is great variability in the clinical presentation; according to Witkop, AI can be categorized into 14 subtypes, which makes its diagnosis extremely complex. OBJECTIVE: This study aimed to describe and determine the frequency of clinical and radiographic features and inheritance patterns found in 41 Chilean families diagnosed with diverse types of AI. MATERIAL AND METHODS: We analyzed the clinical records, photographs, pedigrees and radiographs of 121 individuals recruited between 2003 and 2016. All of the information was included in a database that was analyzed using the application Stata 14. RESULTS: The 72 affected individuals had average age of 16 years, and no sex association with the presence of AI was found. The most frequent clinical subtypes were as follows: 43% hypomature, 25% hypoplastic, 21% hypomature/hypoplastic, 7% hypocalcified and 4% hypocalcified/hypoplastic. The number of severely affected teeth was 22, which occurred in the patients with hypocalcified and hypocalcified/hypoplasic AI who presented the highest number of damaged teeth. Caries and periodontal disease were found in 47 and 32% of the patients, respectively. Malocclusions were observed in 43% of the individuals with AI, with open bite being the most frequent. Radiographically, the thickness of the enamel decreased in 51% of the patients, and 80% showed decreased radiopacity of the enamel compared to that of dentin. Autosomal dominant inheritance pattern was found in 37% of the families with hypoplastic AI, and autosomal recessive pattern was present in 56% of the other clinical subtypes, but more frequently in those affected with hypomature and hypocalcified AI. CONCLUSION: Of the five clinical subtypes, autosomal recessive hypomature, autosomal dominant hypoplastic and autosomal recessive hypomature/hypoplastic AI were the most prevalent subtypes in this group.
Subject(s)
Amelogenesis Imperfecta/diagnostic imaging , Amelogenesis Imperfecta/genetics , Genealogy and Heraldry , Inheritance Patterns , Adolescent , Adult , Aged , Aged, 80 and over , Amelogenesis Imperfecta/epidemiology , Amelogenesis Imperfecta/pathology , Child , Child, Preschool , Chile/epidemiology , Dental Enamel/pathology , Female , Humans , Male , Middle Aged , Phenotype , Sex Distribution , Statistics, Nonparametric , Young AdultABSTRACT
Amelogenesis imperfecta (AI) is one of the developmental enamel defects. In patients with AI, as well as enamel defects, some dental anomalies are encountered and may affect tooth development. For children whose enamel structure is not normal, whether an accurate result can be obtained by dental age determination methods is not clear. The aims of this study are to determine the dental age for the assessment of tooth development in patients with AI by 3 different methods, to decide a method that will present the most accurate result to the chronological age, and to build a basis in terms of postmortem identification. The records of patients who were referred to the Department of Pediatric Dentistry between the years of 1999 and 2018, and diagnosed with AI were reviewed. At the age of 6-15 years, 58 patients (33 males-25 females) (Group I) with AI were determined. A total of 116 healthy individuals (66 males-50 females) (Group II) who were age and gender matched with the AI group were selected as the control group. Chronological age was calculated, and Nolla's, Demirjian's and Haavikko's methods were used to estimate dental age. Chronological and dental ages were compared according to the group and gender. The accuracy of three methods was also evaluated. There was no statistical significant differences for the tooth development in terms of group and gender. Dental age was over-estimated by Demirjian's method and under-estimated by Nolla's and Haavikko's methods. Haavikko's and Nolla's methods were more accurate in the dental age estimation. AI did not present an impact on the dental development. By using particularly Haavikko's method, the possible margin of error in evaluations of dental development can be reduced. Similar studies comprising other defects affecting the tooth structure and morphology are also necessary.
Subject(s)
Age Determination by Teeth/methods , Amelogenesis Imperfecta/epidemiology , Tooth/growth & development , Adolescent , Case-Control Studies , Child , Female , Humans , Male , Radiography, Panoramic , Retrospective Studies , Tooth/diagnostic imaging , Tooth Calcification , Turkey/epidemiologyABSTRACT
Jalili syndrome is a rare genetic disorder first identified by Jalili in Gaza. Amelogenesis imperfecta and cone-rode dystrophy are simultaneously seen in Jalili syndrome patients as the main and primary manifestations. Molecular analysis has revealed that the CNNM4 gene is responsible for this rare syndrome. Jalili syndrome has been observed in many countries around the world, especially in the Middle East and North Africa. In the current scoping systematic review we searched electronic databases to find studies related to Jalili syndrome. In this review we summarise the reported clinical symptoms, CNNM4 gene and protein structure, CNNM4 mutations, attempts to reach a genotype-phenotype correlation, the functional role of CNNM4 mutations, and epidemiological aspects of Jalili syndrome. In addition, we have analysed the reported mutations in mutation effect prediction databases in order to gain a better understanding of the mutation's outcomes.
Subject(s)
Amelogenesis Imperfecta/diagnosis , Amelogenesis Imperfecta/genetics , Cone-Rod Dystrophies/diagnosis , Cone-Rod Dystrophies/genetics , Genetic Association Studies , Genetic Predisposition to Disease , Phenotype , Amelogenesis Imperfecta/epidemiology , Amelogenesis Imperfecta/metabolism , Biomarkers , Cation Transport Proteins/genetics , Cation Transport Proteins/metabolism , Cone-Rod Dystrophies/epidemiology , Cone-Rod Dystrophies/metabolism , Genetic Association Studies/methods , Humans , MutationABSTRACT
Enamel renal syndrome (ERS) is a rare autosomal recessive disorder not fully characterized. Here we investigated ERS characteristics in 11 patients from 5 Brazilian families through clinical examination, imaging, renal ultrasonography, laboratory tests and DNA sequencing. The patients' age ranged from 6 to 25 years-old, and the presence of hypoplastic amelogenesis imperfecta, microdontia, intra-pulpal calcification, impacted posterior teeth with hyperplastic pericoronal follicles, gingival fibromatosis, ectopic calcifications on gingival and pericoronal tissues, and nephrocalcinosis were common findings to all patients. Only 4 patients showed abnormal laboratory tests (vitamin D, parathyroid hormone, phosphate, calcium). Intellectual disability and renal cysts were present in 2 patients each. Biallelic loss of function mutation in FAM20A gene, characterized by one base pair deletion in exon 11, resulting in a frameshift replacing a glutamine at codon 483 for a lysine and terminating at position 24 [NG_029809.1: c.1447delG; p.(Glu483Lysfs*24)], was detected in all patients, strongly suggesting a founder effect. Our results reinforce the distinct orofacial features of ERS, which are the clue for kidney examination and genetic testing. Early diagnosis is essential to minimize the deleterious effects related to ERS. Here we report the largest series of patients with ERS in a same population, and describe, for the first time, a founder mutation for FAM20A.
Subject(s)
Amelogenesis Imperfecta/genetics , Dental Enamel Proteins/genetics , Genetics, Population , Nephrocalcinosis/genetics , Adolescent , Adult , Amelogenesis Imperfecta/epidemiology , Amelogenesis Imperfecta/pathology , Brazil/epidemiology , Child , Exons/genetics , Female , Founder Effect , Frameshift Mutation/genetics , Homozygote , Humans , Kidney/metabolism , Kidney/pathology , Male , Nephrocalcinosis/epidemiology , Nephrocalcinosis/pathology , Pedigree , Sequence Deletion/genetics , Young AdultABSTRACT
Abstract Amelogenesis imperfecta (AI) is a group of enamel development disorders that alter the structure and chemical composition of the tissue. There is great variability in the clinical presentation; according to Witkop, AI can be categorized into 14 subtypes, which makes its diagnosis extremely complex. Objective: This study aimed to describe and determine the frequency of clinical and radiographic features and inheritance patterns found in 41 Chilean families diagnosed with diverse types of AI. Material and Methods: We analyzed the clinical records, photographs, pedigrees and radiographs of 121 individuals recruited between 2003 and 2016. All of the information was included in a database that was analyzed using the application Stata 14. Results: The 72 affected individuals had average age of 16 years, and no sex association with the presence of AI was found. The most frequent clinical subtypes were as follows: 43% hypomature, 25% hypoplastic, 21% hypomature/hypoplastic, 7% hypocalcified and 4% hypocalcified/hypoplastic. The number of severely affected teeth was 22, which occurred in the patients with hypocalcified and hypocalcified/hypoplasic AI who presented the highest number of damaged teeth. Caries and periodontal disease were found in 47 and 32% of the patients, respectively. Malocclusions were observed in 43% of the individuals with AI, with open bite being the most frequent. Radiographically, the thickness of the enamel decreased in 51% of the patients, and 80% showed decreased radiopacity of the enamel compared to that of dentin. Autosomal dominant inheritance pattern was found in 37% of the families with hypoplastic AI, and autosomal recessive pattern was present in 56% of the other clinical subtypes, but more frequently in those affected with hypomature and hypocalcified AI. Conclusion: Of the five clinical subtypes, autosomal recessive hypomature, autosomal dominant hypoplastic and autosomal recessive hypomature/hypoplastic AI were the most prevalent subtypes in this group.
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Adult , Aged , Aged, 80 and over , Young Adult , Inheritance Patterns , Amelogenesis Imperfecta/genetics , Amelogenesis Imperfecta/diagnostic imaging , Genealogy and Heraldry , Phenotype , Chile/epidemiology , Sex Distribution , Statistics, Nonparametric , Dental Enamel/pathology , Amelogenesis Imperfecta/pathology , Amelogenesis Imperfecta/epidemiology , Middle AgedABSTRACT
Food allergy is a potentially life-threatening condition affecting almost 10% of children, with an increasing incidence in the last few decades. It is defined as an immune reaction to food, and its pathogenesis may be IgE mediated, mixed IgE and non-IgE mediated, or non-IgE mediated. Potentially all foods can cause food allergy, but a minority of foods are responsible for the vast majority of reactions reported. A good clinical history is crucial for an accurate diagnosis. Allergy tests, including the skin prick test and measurement of specific IgE antibodies, are useful tools in the case of IgE-mediated or mixed allergy but have not been shown to be of any help in delayed allergic reactions to foods.
Subject(s)
Food Hypersensitivity/diagnosis , Food Hypersensitivity/epidemiology , Amelogenesis Imperfecta/complications , Amelogenesis Imperfecta/epidemiology , Amelogenesis Imperfecta/immunology , Animals , Child, Preschool , Dietary Proteins/adverse effects , Dietary Proteins/immunology , Enterocolitis/complications , Enterocolitis/epidemiology , Enterocolitis/immunology , Food Hypersensitivity/complications , Food Hypersensitivity/immunology , Hearing Loss, Sensorineural/complications , Hearing Loss, Sensorineural/epidemiology , Hearing Loss, Sensorineural/immunology , Humans , Immunoglobulin E/immunology , Infant , Milk/adverse effects , Milk/immunology , Nails, Malformed/complications , Nails, Malformed/epidemiology , Nails, Malformed/immunology , Proctocolitis/complications , Proctocolitis/epidemiology , Proctocolitis/immunology , Skin TestsABSTRACT
INTRODUCTION: Dental anomalies (DAs) are the result of disorders that are able to modify the shape, number, size, and structure of teeth. This study aimed to evaluate the prevalence of DAs using panoramic radiographs in a population of the City of Belém, northern Brazil. MATERIALS AND METHODS: In this study, 487 panoramic radiographs were evaluated searching for DAs. Dental records were reviewed for diagnostic confirmation. DAs related to the shape, number, size, and structure of teeth were investigated. RESULTS: Our results showed a DA prevalence of 56.9%. The most prevalent DA was taurodontism, which was present in 27.19% of cases. Root dilaceration was the second most prevalent DA in adults, whereas hypodontia was the second most prevalent DA in children. A total of 13 DAs were found. CONCLUSIONS: Dental anomalies were present in over half of the sample, and most of them were related to the shape of the teeth. Although there was a high prevalence of shape-related DAs, these alterations are generally of lower severity, and most do not require specific treatment. However, in 19.25% of cases, DAs were found involving the number, size and structure of the teeth. These DAs should be diagnosed and treated early, avoiding thus more serious complications.
Subject(s)
Radiography, Panoramic/statistics & numerical data , Tooth Abnormalities/epidemiology , Adult , Amelogenesis Imperfecta/epidemiology , Anodontia/epidemiology , Brazil/epidemiology , Child , Dens in Dente/epidemiology , Dental Enamel Hypoplasia/epidemiology , Dental Pulp Cavity/abnormalities , Dental Records/statistics & numerical data , Female , Humans , Male , Prevalence , Retrospective Studies , Tooth Abnormalities/diagnostic imaging , Tooth Root/abnormalities , Tooth, Supernumerary/epidemiologyABSTRACT
The purpose of this study was to determine the prevalence of developmental dental anomalies in an Indian population and to statistically analyze the distribution of these anomalies. The study was based on clinical examination, evaluation of dental casts, and panoramic radiographs of 1123 Indian subjects (572 males, 551 females), who visited the outpatient clinic at Government Dental College, Indore between November 2009 and September 2010, after obtaining their informed consent. These patients were examined for the following developmental dental anomalies: shape anomalies (microdontia, talon cusp, dens evaginatus, fusion, taurodontism), number anomalies (hypodontia, oligodontia, anodontia), structural anomalies (amelogenesis imperfecta, dentinogenesis imperfecta) and positional anomalies (ectopic eruption, rotation, impaction). The percentages of these anomalies were assessed for the whole group and compared using statistical analysis. Among the 1123 subjects, a total of 385 individuals (34.28%) presented with the selected developmental dental anomalies. The distribution by sex was 197 males (34.44%), and 188 females (34.06%). Out of the total 1123 individuals, 351 (31.26%) exhibited at least one anomaly, 28 (2.49 %) showed two anomalies and 6 (0.53%) displayed more than two anomalies. P values indicated that the dental anomalies were statistically independent of sex. On intergroup comparison, positional anomalies were significantly most prevalent (P < 0.05) in the Indian population. The most common developmental dental anomaly was rotation (10.24%), followed by ectopic eruption (7.93%). The next common group was number anomalies. The most common number anomaly was hypodontia (4.19%), which had a higher frequency than hyperdontia (2.40%). Analyzing the next prevalent group of shape anomalies, microdontia (2.58%) was found to be the most common, followed by taurodontism (2.49%), dens evaginatus (2.40%) and talon cusp (0.97%). Dentinogenesis imperfecta (0.09%) was the rarest, followed by amelogenesis imperfecta (0.27%) and fusion (0.27%).
Subject(s)
Tooth Abnormalities/epidemiology , Amelogenesis Imperfecta/epidemiology , Anodontia/epidemiology , Dens in Dente/epidemiology , Dental Enamel/abnormalities , Dental Enamel Hypoplasia/epidemiology , Dental Pulp Cavity/abnormalities , Dentinogenesis Imperfecta/epidemiology , Female , Fused Teeth/epidemiology , Humans , India/epidemiology , Male , Malocclusion/epidemiology , Prevalence , Sex Factors , Tooth Crown/abnormalities , Tooth Eruption, Ectopic/epidemiology , Tooth, Impacted/epidemiologySubject(s)
Amelogenesis Imperfecta/veterinary , Breeding , Cattle Diseases/epidemiology , Disease Outbreaks/veterinary , Amelogenesis Imperfecta/epidemiology , Amelogenesis Imperfecta/genetics , Amelogenesis Imperfecta/pathology , Animals , Cattle , Cattle Diseases/genetics , Cattle Diseases/pathology , Female , Genetic Predisposition to DiseaseABSTRACT
Amelogenesis imperfecta (AI) is a genetically heterogeneous group of diseases that result in defective development of tooth enamel. Mutations in several enamel proteins and proteinases have been associated with AI. The object of this study was to evaluate evidence of etiology for the six major candidate gene loci in two Brazilian families with AI. Genomic DNA was obtained from family members and all exons and exon-intron boundaries of the ENAM, AMBN, AMELX, MMP20, KLK4 and Amelotin gene were amplified and sequenced. Each family was also evaluated for linkage to chromosome regions known to contain genes important in enamel development. The present study indicates that the AI in these two families is not caused by any of the known loci for AI or any of the major candidate genes proposed in the literature. These findings indicate extensive genetic heterogeneity for non-syndromic AI.
Subject(s)
Amelogenesis Imperfecta/genetics , Amelogenesis/genetics , DNA/genetics , Dental Enamel Proteins/genetics , Dental Enamel/growth & development , Mutation , Amelogenesis Imperfecta/epidemiology , Amelogenesis Imperfecta/metabolism , Brazil/epidemiology , Dental Enamel Proteins/metabolism , Exons , Family , Female , Genetic Predisposition to Disease , Genotype , Humans , Incidence , Male , PedigreeSubject(s)
Consanguinity , Tooth Abnormalities/epidemiology , Adolescent , Adult , Amelogenesis Imperfecta/epidemiology , Anodontia/epidemiology , Child , Child, Preschool , Dens in Dente/epidemiology , Female , Humans , India/epidemiology , Infant , Infant, Newborn , Male , Middle Aged , Retrospective Studies , Tooth, Supernumerary/epidemiologyABSTRACT
Craniofacial alterations occur with increased frequency in patients with amelogenesis imperfecta (AI). The purpose of this study was to characterize the craniofacial features associated with AI in families from the US. Twenty-seven people with AI and 14 unaffected family members from nine separate kindreds were evaluated. The diagnosis was established by history, clinical, and radiographic examination, and histological and or biochemical analysis of enamel. The kindreds were generally classified as hypoplastic AI (HPAI), hypocalcified AI (HCAI), or hypomaturation AI (HMAI) and then further subclassified based on phenotype and mode of inheritance. Linear and angular cephalometric measures were converted to z-scores using gender/age matched values from the Bolton and Behrent's standards. Statistical analyses included t-tests and ANOVA accepting P < or = 0.05 as significant. The vertical dimension of the lower face was significantly increased (ANSMe; P = 0.001), especially in affected individuals compared with unaffected relatives, in all kindreds with HCAI and HMAI but in only one kindred with autosomal recessive rough AI. Clinically, an anterior open bite (overbite < 0 mm) was observed in 26% of all dentate individuals with AI and none of their unaffected relatives. Skeletal morphology was highly variable depending on the AI type and kindred. While this study shows an association of altered craniofacial morphology with certain AI kindreds, the relationship of the AI genotype to the observed malocclusions remains to be defined.
Subject(s)
Amelogenesis Imperfecta/epidemiology , Craniofacial Abnormalities/epidemiology , Adolescent , Adult , Amelogenesis Imperfecta/complications , Amelogenesis Imperfecta/diagnostic imaging , Amelogenesis Imperfecta/pathology , Child , Child, Preschool , Craniofacial Abnormalities/complications , Craniofacial Abnormalities/diagnostic imaging , Craniofacial Abnormalities/pathology , Data Interpretation, Statistical , Female , Humans , Male , Middle Aged , Prevalence , Radiography , Risk Factors , United States/epidemiologyABSTRACT
The aim of this study was to investigate genetic and environmental factors associated with hypoplastic defects of enamel in a detailed family study combined with an overall prevalence study. 68 percent of 1,518 children with a "complete" permanent dentition had enamel defects, 14.6 percent having hypoplasia. The Family Study consisted of 101 Index Cases from the Prevalence Study having 2 or more teeth with hypoplasia and their first degree relatives: they were compared with 101 matched controls and their relatives. The clinical examinations were supplemented with structured interviews to obtain social, medical and dental histories. Three Index Cases had amelogenesis imperfecta and 18 had "chronological hypoplasia". Bilateral hypoplasia of lower central incisors had a multifactorial aetiology (heritability 70 percent +/- 38 percent), while hypoplasia of pre-molars was associated with familial occurrence of defects. There was evidence suggesting a predisposition in some families to developmental defects of enamel.
Subject(s)
Dental Enamel Hypoplasia/epidemiology , Adolescent , Amelogenesis Imperfecta/epidemiology , Child , Chronic Disease , Cross-Sectional Studies , Humans , Incisor , London/epidemiology , Molar , PrevalenceABSTRACT
In 1984 the prevalence and distribution of developmental defects of dental enamel in 791 children aged 15-16 years was determined using the DDE index. The children were all residents of the county of South Glamorgan, Wales, which has a public water supply containing less than 0.1 mg fluoride/litre. The teeth were dried but not cleaned prior to examination and a dental operating light was used for illumination. Teeth with some type of defective enamel were seen in 50.1 per cent of children. White/single opacities were present in 28.3 per cent of children and white/diffuse, patchy opacities in 10.2 per cent of children. The enamel was abnormal in 5.71 per cent of all teeth with white/single opacities and white/diffuse, patchy opacities occurring in 1.81 per cent and 1.66 per cent of teeth respectively. There were no significant differences between boys and girls in terms of mouth or tooth prevalence of defects. Overall, 7.6 per cent of maxillary teeth were affected compared to 4.3 per cent of mandibular teeth. Most teeth were affected equally on right and left sides of the mouth except for maxillary lateral incisors and canines which had significantly more defects on the right (P less than 0.05 and P less than 0.005 respectively) and maxillary second molars, which had significantly more defects on the left (P less than 0.01). Maxillary central incisors (15.2 per cent) were affected by enamel defects most often followed by maxillary first molars (9.1 per cent) and maxillary lateral incisors and mandibular first molars (both 8.3 per cent).(ABSTRACT TRUNCATED AT 250 WORDS)
Subject(s)
Amelogenesis Imperfecta/epidemiology , Dental Enamel Hypoplasia/epidemiology , Adolescent , Female , Fluoridation , Fluorosis, Dental/epidemiology , Humans , Incisor , Male , Prevalence , Tooth Discoloration/epidemiology , Wales/epidemiologyABSTRACT
The clinical manifestations of amelogenesis imperfecta (AI) were described in 165 individuals from 51 families. The inheritance pattern for AI in these families had previously been investigated, and it was hypothesized that AI probably is solely an autosomal dominant (AD) or X-linked trait. To test this hypothesis the connection between clinical manifestation and inheritance pattern was studied. Eight different variants of AI were seen. In 33/51 families all affected individuals could be assigned to the same clinical variant. In 8/51 families those affected were assigned to different clinical variants. In the two families where an X-linked recessive (XR) inheritance pattern was found probable, the clinical manifestation differed between women and men. Except for one variant only seen as an AD trait, and the manifestation in women in families with an X-linked recessive inheritance pattern, no connection was found between a specific inheritance pattern and a specific clinical manifestation. Accordingly it seems likely that AI is solely an AD or X-linked trait. The different clinical variants observed should be regarded as a varying expressivity of the gene and in the families with X-linked inheritance probably due to lyonization. In the remaining families the modifying mechanisms are not known.
Subject(s)
Amelogenesis Imperfecta/genetics , Adolescent , Adult , Amelogenesis Imperfecta/epidemiology , Amelogenesis Imperfecta/pathology , Child , Child, Preschool , Cross-Sectional Studies , Genetic Linkage , Humans , Pedigree , Sweden , X ChromosomeABSTRACT
The aim of the study was to establish the prevalence and incidence of amelogenesis imperfecta (AI) in the county of Västerbotten, northern Sweden using the criteria of Witkop & Sauk (1976). The diagnoses were based upon clinical and radiographic evidence. The study-population consisted of all 3-19-yr-olds born in the county from 1963 to 1979. AI was diagnosed in 79 children, 41 girls and 38 boys, giving a prevalence of 1.4:1000. The mean incidence 1963-79 was 1.3:1000. Half of the children with AI had brothers or sisters in the group. The hypoplastic form was the most common (58 children) followed by the hypomaturation form (16 children). Only five children had the hypomineralization form.
Subject(s)
Amelogenesis Imperfecta/epidemiology , Adolescent , Adult , Amelogenesis Imperfecta/diagnosis , Amelogenesis Imperfecta/pathology , Child , Child, Preschool , Female , Humans , Male , SwedenABSTRACT
Hereditary Amelogenesis Imperfecta (HAI) is a hereditary dental enamel disorder showing a varying clinical picture. Reviewing the literature, there seems to be a need for a better knowledge in many aspects concerning this disorder, not least to enhance the therapeutical approach for individuals suffering from HAI. The aims of this thesis, were to identify and to classify hereditary enamel defects and to estimate their prevalence in a Swedish child population. The oral health of individuals diagnosed as having HAI was also analysed and evaluated. 425 000 children, from the western part of Sweden, aged 3-19 years, were screened in order to identify individuals showing enamel defects of hereditary linkage. In this way, 105 children were identified. They were clinically classified into 12 different subgroups. Genetic analyses were also made. In 99 children, the oral health status was analysed and evaluated. In another patient material, 26 individuals aged 8-20 years and with HAI, the anterior open bite malocclusion was studied. The prevalence of HAI was estimated to be 1 case in 4000. In analyses of genetic data, eight different subgroups of HAI were identified based on the two major types, the hypoplastic and the hypomineralized. The hypoplastic, rough-pitted type with autosomal dominance, represented the most common HAI disorder. A low caries susceptibility was found in children with severely hypoplastic and hypomineralized enamel. Bacteriological and salivary data in the children could not fully support the findings regarding the low caries susceptibility. A high number of restorations were recorded predominantly in severe cases of the hypomineralized type, in which group gingival inflammation, plaque and dental calculus also were frequently found. The open bite occlusion could be associated both with the hypoplastic and the hypomineralized types of HAI. This malocclusion was considered to be of skeletal origin. The prevalence found shows that HAI is a fairly common enamel disorder with a varying clinical expressivity. The oral health findings in individuals suffering from the disorder indicate a need for early treatment planning.