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Materia Socio-medica 2023Dental anomalies (DAs) represent a significant chapter in pediatric dentistry with a lot of practical relevance. Both primary and permanent dentitions may be affected.
BACKGROUND
Dental anomalies (DAs) represent a significant chapter in pediatric dentistry with a lot of practical relevance. Both primary and permanent dentitions may be affected.
OBJECTIVE
The main objective of our study was to evaluate, using digital panoramic radiographs, the prevalence, distribution, and patterns of DAs in a sample of Lebanese children aged between 8 and 15 years old.
METHODS
112 digital panoramic radiographs of patients aged between 8 and 15 years (60 males and 52 females) from the year 2017 till 2022 attending the department of Pediatric Dentistry and Dental Public Health at the Faculty of Dental Medicine at the Lebanese University were assessed for DAs of number (hypodontia, oligodontia, hyperdontia), of size (microdontia, macrodontia), of shape (fusion, gemination, dilaceration, taurodontism), of position (transposition, ectopia, impaction), and of structure (dentin dysplasia, amelogenesis imperfecta, dentinogenesis imperfecta). The data were analyzed statistically using Chi-square and Fisher's exact tests.
RESULTS
Out of 112 patient radiographs, 84 showed at least one DA, which suggests a very high prevalence (75%). Among them, 36.9% exhibited multiple types of anomalies. These 84 patients showed a total of 274 DAs, distributed equally among males and females.
CONCLUSION
Dentists should be alerted to the presence of DAs. Their high prevalence requires careful clinical and radiological examinations for early detection. Regular monitoring is mandatory and could guide preventive approaches to minimize associated dental complications.
PubMed: 38380282
DOI: 10.5455/msm.2023.35.319-324 -
Cureus Oct 2022Disturbances seen during tooth formation result in developmental dental anomalies presenting in the oral cavity. These anomalies manifest as discrepancies in the...
BACKGROUND
Disturbances seen during tooth formation result in developmental dental anomalies presenting in the oral cavity. These anomalies manifest as discrepancies in the number, color, size, and shape of the teeth. These dental anomalies can either be acquired, congenital, or developmental. Their early detection and management are necessary as they affect aesthetics and occlusion. The study had the aim of gauging the prevalence of developmental anomalies in the permanent dentition of Indian subjects.
METHODS
A total of 1192 participants recruited from the institute for study purposes, comprising males and females, were examined clinically and radiographically, and their dental casts were also evaluated. These subjects were assessed for anomalies in position, structure, number, and/or shape. Anomalies in the position include transmigration, transportation, and/or ectopic position; anomalies in the structure, including dentinogenesis imperfecta or amelogenesis imperfecta; anomalies in number, including hyperdontia or hypodontia; and anomalies in shape, including peg laterals, taurodontism, fusion, dens evaginatus, talon cusp, and/or microdontia.
RESULTS
A statistically significant difference was seen in unilateral microdontia and dentinogenesis imperfecta between males and females, with attained p-values of 0.003 and 0.06, respectively. The results of the present study showed that 9.89% (n = 118) study subjects, whereas 1% (n = 12) study subjects had two dental anomalies in their permanent dentitions, with no subject presenting more than two dental anomalies, showing that various dental anomalies have a low prevalence in the Indian population.
CONCLUSION
The present study has led to the conclusion that the prevalence of dental anomalies is low in Indian subjects. However, these anomalies should be detected and treated early to prevent them from causing further complications.
PubMed: 36397922
DOI: 10.7759/cureus.30156 -
Oral Diseases Mar 2023
Review
Topics: Humans; Frameshift Mutation; Dentin Dysplasia; Dentinogenesis Imperfecta; Mutation; Extracellular Matrix Proteins; Phosphoproteins; Sialoglycoproteins; Dentin
PubMed: 36346235
DOI: 10.1111/odi.14431 -
Frontiers in Surgery 2022Osteogenesis imperfecta (OI) is a rare heterogeneous genetic disorder commonly autosomal dominant with variants in the COL1A1 and COL1A2 genes. It is characterized by...
BACKGROUND
Osteogenesis imperfecta (OI) is a rare heterogeneous genetic disorder commonly autosomal dominant with variants in the COL1A1 and COL1A2 genes. It is characterized by bone fragility and deformity, recurrent fractures, blue sclera, dentinogenesis imperfecta, short stature, and progressive deafness.
CASE PRESENTATION
We present a novel splicing mutation in the COL1A1 gene (c.2398-1G > C) in a 6-year-old Ecuadorian girl with fractures after light pressure and blue sclera. We identified the pathogenic variant, performed a literature review of splice variants, and recognized their location in the COL1A1 functional domains.
CONCLUSION
We describe the first clinical description of a patient with OI type 1 caused by a splice variant in intron 34 of COL1A1 gene and identify that most of them are localized in the triple-helical region domain. We suggest that the splice variant in signal peptide, von Willebrand factor type C, and nonhelical regions maintain their functionality or that individuals affected with severe cases die early in development and are not reported.
PubMed: 36338653
DOI: 10.3389/fsurg.2022.986372 -
The Journal of Clinical Endocrinology... Mar 2023Hereditary hypophosphatemic rickets (HR) consists of a group of inherited hypophosphatemia due to mutations of different genes, which need genetic analysis to make a...
CONTEXT
Hereditary hypophosphatemic rickets (HR) consists of a group of inherited hypophosphatemia due to mutations of different genes, which need genetic analysis to make a differential diagnosis. Among them, autosomal recessive hypophosphatemic rickets type 1 (ARHR1), caused by a homozygous mutation of dentin matrix protein 1 (DMP1), is extremely rare, with only 30 reported patients. To date, there has been no case with compound heterozygous DMP1 mutations.
OBJECTIVE
To report the first compound heterozygous mutations of DMP1 causing ARHR1 and confirm the effect of the mutation on DMP1 protein.
METHODS
We report the clinical features of a Chinese patient with HR. Whole-exome sequencing (WES) was performed on the proband. Then, Cytoscan HD array, Sanger sequencing, and genomic quantitative PCR (qPCR) were used to confirm the mutations. A cell experiment was conducted to explore the effect of the mutation.
RESULTS
The proband is a 4-year-old boy, who developed genu varum when he was able to walk at age 1 year and tooth loss after a mild hit at age 3.5 years. Physical examination, biochemical measurement, and imaging finding indicated HR. Family history was negative. WES performed on the proband revealed a novel start codon mutation (c.1A > T, p.Met1Leu) in DMP1 and a large deletion involving most of the small integrin-binding ligand N-linked glycoprotein (SIBLING) family gene, including DSPP, DMP1, IBSP, and MEPE. The novel paternally inherited start codon mutation, which resulted in decreased expression of DMP1 protein with smaller molecular weight and cleavage defect, was confirmed by Sanger sequencing. The maternally inherited deletion was validated by Cytoscan and qPCR, and the breakpoint was finally identified by long-range PCR and Sanger sequencing. Manifestation of dentin dysplasia (DD) or dentinogenesis imperfecta (DGI) caused by DSPP mutations was absent in the patient and his mother, confirming that haploinsufficiency could not lead to DD or DGI.
CONCLUSION
We report for the first time compound heterozygous DMP1 mutations consisting of a large deletion and a novel start codon mutation (c.1A > T, p.Met1Leu) in a Chinese patient with ARHR1.
Topics: Male; Humans; Infant; Child, Preschool; Familial Hypophosphatemic Rickets; Codon, Initiator; Mutation; Family; Extracellular Matrix Proteins; Pedigree
PubMed: 36334264
DOI: 10.1210/clinem/dgac640 -
British Dental Journal Sep 2022This paper examines the various contemporary clinical interfaces between paediatric dentistry and restorative dentistry for patients with both acquired and congenital...
This paper examines the various contemporary clinical interfaces between paediatric dentistry and restorative dentistry for patients with both acquired and congenital abnormalities presenting to primary and secondary care. Dental trauma of the child or adolescent has long-standing implications on future oral health due to conditions such as ankylosis, pulp necrosis, coronal tissue loss or tooth loss, all of which provide significant challenges into adulthood. Similarly, congenital conditions, such as hypodontia and structural deficiencies or malformations, such as amelogenesis and dentinogenesis imperfecta, result in the need for collaborative, multi-speciality decision-making from a young age, creating a pathway for longitudinal multi-disciplinary team treatment planning.
Topics: Adolescent; Adult; Amelogenesis Imperfecta; Anodontia; Child; Humans; Oral Health; Patient Care Planning; Pediatric Dentistry
PubMed: 36151172
DOI: 10.1038/s41415-022-4983-2 -
Journal of Veterinary Dentistry Dec 2022This review describes the clinical, radiographic and histologic characteristics of dentinogenesis imperfecta diagnosed in two unrelated young dogs without evidence of... (Review)
Review
This review describes the clinical, radiographic and histologic characteristics of dentinogenesis imperfecta diagnosed in two unrelated young dogs without evidence of concurrent osteogenesis imperfecta. The dentition was noted to have generalized coronal discoloration ranging from grey-blue to golden brown. Clinical pulp exposure, coronal wear and fractures were observed as was radiographic evidence of endodontic disease, thin dentin walls or dystrophic obliteration of the pulp canal. The enamel was severely affected by attrition and abrasion despite histologically normal areas; loss was most likely due to poor adherence or support by the underlying abnormal dentin. Histologically, permanent and deciduous teeth examined showed thin, amorphous dentin without organized dentin tubules and odontoblasts had dysplastic cell morphology. Primary dentin disorders, including dentinogenesis imperfecta and dentin dysplasia, have been extensively studied and genetically characterized in humans but infrequently reported in dogs. Treatment in human patients is aimed at early recognition and multi-disciplinary intervention to restore and maintain normal occlusion, aesthetics, mastication and speech. Treatment in both humans and canine patients is discussed as is the documented genetic heritability of primary dentin disorders in humans.
Topics: Humans; Dogs; Animals; Dentinogenesis Imperfecta; Esthetics, Dental; Odontoblasts; Osteogenesis Imperfecta; Dentin; Dog Diseases
PubMed: 36113440
DOI: 10.1177/08987564221123419 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Sep 2022To explore the clinical and genetic characteristics of a Chinese pedigree affected with hereditary dentinogenesis imperfecta (DGI) type II.
OBJECTIVE
To explore the clinical and genetic characteristics of a Chinese pedigree affected with hereditary dentinogenesis imperfecta (DGI) type II.
METHODS
Clinical data of the pedigree members were collected. Genomic DNA was extracted from peripheral blood samples and subjected to whole exome sequencing.
RESULTS
Clinical characteristics of the affected family members have included amber teeth along with significant attrition, constricted roots and dentine hypertrophy leading to pulpal obliteration, which were suggestive of DGI type II. All of the affected members were found to have harbored a novel heterozygous c.2837delA (p.Asp946Valfs*368) variant of the DSPP gene which was predicted to be likely pathogenic.
CONCLUSION
The c.2837delA variant of the DSPP gene probably underlay the disease in this pedigree. Above finding has expanded the variant spectrum of DSPP gene and provided a basis for molecular diagnosis and genetic counseling for this pedigree.
Topics: Dentinogenesis Imperfecta; Extracellular Matrix Proteins; Humans; Mutation; Pedigree; Phosphoproteins; Sialoglycoproteins
PubMed: 36082577
DOI: 10.3760/cma.j.cn511374-20211014-00811 -
Journal of Oral Biology and... 2022DSPP is known to be important in the formation of dentin. In DSPP's absence, a severely hypomineralized dentin is formed, in a condition known as dentinogenesis...
DSPP is known to be important in the formation of dentin. In DSPP's absence, a severely hypomineralized dentin is formed, in a condition known as dentinogenesis imperfecta (DGI). DSPP has recently been found in several different tissues, including the mandibular condylar cartilage and craniofacial skeleton. However, there is limited literature on the role of DSPP in these tissues. Therefore, the objective of the present study was to investigate the role of DSPP in craniofacial development. Two mice strains, DSPP knockout and C57BL/6J wild type, were compared at 1, 3, and 6-months of age. Skulls and condyles were investigated through morphological and histological analyses. Cell culture was also conducted to investigate the potential effects of DSPP absence in osteoblasts from the calvaria. Mineralization defects were noticed in the structures of skulls and MCC, with the most significant impact at 1 month of age. DSPP is an essential protein for the normal mineralization of craniofacial tissues.
PubMed: 36062256
DOI: 10.1016/j.jobcr.2022.08.010 -
Healthcare (Basel, Switzerland) Aug 2022Dentinogenesis imperfecta type I (DGI-I) is a hereditary alteration of dentin associated with osteogenesis imperfecta (OI). To describe and study the morphological...
Dentinogenesis imperfecta type I (DGI-I) is a hereditary alteration of dentin associated with osteogenesis imperfecta (OI). To describe and study the morphological characteristics of DGI-I with scanning electron microscopy (SEM). Twenty-five teeth from 17 individuals diagnosed with OI and 30 control samples were studied with SEM at the level of the enamel, dentin-enamel junction (DEJ) and four levels of the dentin, studying its relationship with clinical-radiographic alterations. The variables were analysed using Fisher's exact test, with a confidence level of 95% and asymptotic significance. OI teeth showed alterations in the prismatic structure in 56%, interruption of the union in the enamel and dentin in 64% and alterations in the tubular structure in all of the cases. There is a relationship between the severity of OI and the morphological alteration of the dentin in the superficial ( = 0.019) and pulpar dentin ( 0.004) regions. : Morphological alterations of the tooth structure are found in OI samples in the enamel, DEJ and dentin in all teeth regardless of the presence of clinical-radiographic alterations. Dentin structural anomalies and clinical dental alterations were observed more frequently in samples from subjects with a more severe phenotype of OI.
PubMed: 36011110
DOI: 10.3390/healthcare10081453