Malformed Teeth Research Articles

Prevalence and genetic correlation evaluation of dental fluorosis in rural population of Nagpur, India

Dental fluorosis (DF) is a tooth malformation related to ingestion of high amount of fluoride (F) during tooth development. According to various surveys (1994 , 2000 & 2002), it is clearly established that DF has increased incidences rates in the areas with fluoridated water ranging from 7.7% upto 80.9% and only 2.9% to 42% in areas without fluoridated water. It was being observed that 10-20% of the rural population reported to department with dental fluorosis belonged to non-fluoridated areas. Several studies suggested that there was a weak corelationship between drinking water & DF severity. Aim: The present study was undertaken to investigate prevalence of dental fluorosis and hereditary patterns of dental fluorosis in identified individuals among rural population in vicinity of Nagpur district. Materials and Methods: A case control study was conducted at six rural places around Nagpur. The fluoride content was estimated from sample of drinking water from well and tap.384 individuals were selected using systematic random sampling method. A detailed case history was taken followed by reporting of DMFT and DMFS indices. The collected data was analyzed statistically using students’t test. Results: All the water samples tested reported F concentration varying with 0.267 to 1.081mg/ml. Prevalence of DF for individuals consuming well water(62.1%) was found to be significantly higher(p Conclusion: There was no correlation with DF and F concentration in drinking water, however its strong correlation exists with genetic component. Keywords: Dental fluorosis (DF)

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.

PCNT encodes a large coiled- protein localizing to pericentriolar material and is associated with microcephalic osteodysplastic primordial dwarfism type II syndrome (MOPD II). We report our experience of nine new patients from seven unrelated consanguineous Egyptian families with the distinctive clinical features of MOPD II in whom a customized NGS panel showed homozygous truncating variants of PCNT. The NGS panel results were validated thereafter using Sanger sequencing revealing three previously reported and three novel PCNT pathogenic variants. The core phenotype appeared homogeneous to what had been reported before although patients differed in the severity showing inter and intra familial variability. The orodental pattern showed atrophic alveolar ridge (five patients), rootless tooth (four patients), tooth agenesis (three patients), and malformed tooth (three patients). In addition, mesiodens was a novel finding found in one patient. The novel c.9394-1G>T variant was found in two sibs who had tooth agenesis. CNS anomalies with possible vascular sequelae were documented in two male patients (22.2%). Simplified gyral pattern with poor development of the frontal horns of lateral ventricles was seen in four patients and mild thinning of the corpus callosum in two patients. Unilateral coronal craniosynstosis was noted in one patient and thick but short corpus callosum was an unusual finding noted in another. The later has not been reported before. Our results refine the clinical, neuroradiological, and orodental features and expand the molecular spectrum of MOPD II.

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English

A Hypohidrotic Ectodermal Dysplasia Arising From a New Mutation in a Yorkshire Terrier Dog

Hypohidrotic ectodermal dysplasias (HED) constitute a group of genetic disorders that affect ectodermal derivatives such as sweat glands, sebaceous glands, hair, and teeth. The vast majority of cases of HED are caused by a recessive mutation of the EDA gene located in the X chromosome. In these cases, affected individuals are usually male and have alopecia and hypotrichosis with characteristic distribution, in addition to malformed teeth and fewer than normal. From a canine HED isolated case (proband) andc in order to verify if this emerged from a new mutation, it was possible to construct a pedigree with 5 generations and 93 individuals representing an extended and informative family. The proband's mother crossed with 2 different males and generated 33 descendants in 9 gestations: 1 affected male (proband), 15 normal males, and 17 normal females, which together can be considered as 1 sibship. Through Bayesian inference, it was possible to establish that this case originated from a new mutation, with a 99.99% probability of the mother of the proband not being a carrier.

Aesthetic correction of discolored fluorosed anteriors with porcelain laminate veneers: Case report

Restoration of smile is one of the most gratifying services, which can be rendered to a patient by a dentist. Veneer is a thin layer of tooth-colored material, which is applied to tooth surface to correct the enamel defects, intrinsic discoloration, and malaligned or malformed teeth. Porcelain laminate veneer is a conservative, minimally invasive alternative to full-coverage restoration that has evolved over the last several decades. This article presents conservative aesthetic procedure in the management of teeth affected with fluorosis using porcelain laminate veneers.

Early childhood tooth bud removal practice (“Ibyinyo”): preventable dental damage

Tooth bud removal called Ibyinyo is the practice of removing the developing tooth buds, usually done on an infant, typically performed by traditional healers who believe that this practice will reduce fever and diarrhoea in children. This practice is most prevalent in East-African countries, including Rwanda. These procedures are mostly performed in non-sterile conditions using basic sharp instruments. We will discuss the case of a 10-year-old female patient who was presented at the dental clinic, with two malformed permanent canine teeth. Clinical examination revealed malformed enamel and elongated permanent right maxillary canine tooth left mandibular canine tooth with crown malformation. She was also presented with retained (primary) left maxillary lateral incisor tooth and missing left maxillary canine tooth. In addition, the ectopic eruption of left maxillary central incisor tooth and missing permanent right mandibular canine tooth were noted. All these complications resulted from tooth bud removal that the patient had experienced in her early childhood. Her malformed right maxillary and left lower mandibular canine teeth were reshaped, using composite filling materials, to improve her appearance aesthetically. Ibyinyo is preventable damage, done out of ignorance and superstitious practices that can be stopped by growing social awareness. Therefore, educating parents through community-based campaigns on the detrimental consequences of early childhood tooth bud removal through Ibyinyo practice might be helpful to eradicate this harmful and unnecessary practice.

Mandibular Carnassial Tooth Malformations in 6 Dogs-Micro-Computed Tomography and Histology Findings.

Objective: To document the clinical, radiographic, and histological characteristics of mandibular first molar teeth with developmental abnormalities previously attributed to dens invaginatus and enamel pearls in dogs.Materials and Methods: Affected mandibular first molar teeth from dogs were evaluated grossly and via intraoral radiography. Endodontically and/or periodontally compromised teeth were extracted and subjected to some combination of micro-computed tomography, histopathology, and immunohistochemistry with anti-amelogenin antibody.Results: Six dogs with developmental abnormalities of mandibular first molar teeth were identified, representing 11 affected teeth. The condition was bilateral in 5 dogs, while in 1 dog, only one mandibular first molar tooth was present. Patient weight ranged from 1.7 to 6 kg (median = 4.09 kg). On intraoral radiographs, root convergence or parallelism was noted in 6 of 11 teeth, and root dilaceration was noted in 3 of 11 teeth. Eight teeth required extraction due to periapical lucencies or periodontitis. On micro-CT, the abnormal teeth were characterized by the presence of abnormal, heterogenous hard tissue with beam attenuation characteristics midway between that of enamel and dentin. Enamel fissures were identified in 4 of 8 teeth, while ectopic radicular enamel was identified in 2 of 8 teeth. The abnormal tissue was traversed by channels measuring 20–40 μm in diameter. Channels communicated with the enamel fissures in 2/8 teeth, the furcation in 2/8 teeth and the pulp in 4/8 teeth. The abnormal tissue was frequently surrounded by disorganized dentin. Histologic features of enamel and dentin were absent from the abnormal tissue and immunohistochemistry to detect amelogenin in the abnormal tissue was negative in all samples.Conclusion: The dental abnormalities described here correspond to a previously unrecognized developmental abnormality involving the mandibular first molar teeth in dogs. The developmental origin of the abnormal tissue could not be ascertained, and further investigations are required to determine the mode of formation, origin of the abnormal tissue, and factors associated with development. These developmental abnormalities more closely resemble molar-incisor malformation, rather than dens invaginatus or enamel pearls as described in humans. The authors propose that affected mandibular first molar teeth simply be referred to as having carnassial tooth malformations.

Tooth Malformations, DMFT Index, Speech Impairment and Oral Habits in Patients with Fetal Alcohol Syndrome.

Background: Fetal alcohol spectrum disorder (FASD) is a developmental disorder with severe negative lifetime consequences. Although knowledge about the harmfulness of alcohol consumption during pregnancy has spread, the prevalence of fetal alcohol spectrum disorder is very high. Our study aims at identifying fetal alcohol syndrome (FAS)-associated dental anomalies or habits, which need early attention. Methods: Sixty children (30 FAS; 30 controls) were examined prospectively. Swallowing pattern, oral habits, breastfeeding, speech therapy, ergotherapy, physiotherapy, exfoliation of teeth, DMFT (decayed, missing, filled teeth) index, modified DDE (developmental defects of enamel) index and otitis media were recorded. Results: Swallowing pattern, exfoliation of teeth, and otitis media were not significantly different. Significant differences could be found concerning mouthbreathing (p = 0.007), oral habits (p = 0.047), age at termination of habits (p = 0.009), speech treatment (p = 0.002), ergotherapy, physiotherapy, and breastfeeding (p ≤ 0.001). DMFT (p ≤ 0.001) and modified DDE (p = 0.001) index showed significantly higher values for children with fetal alcohol syndrome. Conclusions: Children with fetal alcohol syndrome have a higher need for early developmental promotion such as speech treatment, ergotherapy, and physiotherapy. Mouthbreathing, habits, and lack of breastfeeding may result in orthodontic treatment needs. High DMFT and modified DDE indexes hint at a higher treatment and prevention need in dentistry.

Rieger Syndrome: Rehabilitation With Dental Implants

Axenfeld-Rieger syndrome (ARS), also known as Rieger syndrome, is a rare autosomal dominant condition defined by craniofacial, ocular, dental, periumbilical, and systemic anomalies. This case report describes in detail a multidisciplinary approach to successfully restore the oral function and esthetics of a 22-year-old patient diagnosed with ARS. The patient's clinical evaluation revealed that the area corresponding with teeth #13, #12, #11, #21, #22, and #23 was occupied by four malformed and/or deciduous teeth. The four anterior teeth were extracted, and socket preservation was performed using bovine-derived porous bone mineral. Six months after extractions, two implants were placed in the location of the lateral incisors and additional bone graft was performed. Two months after the initial healing, a temporary fixed partial was delivered and 9 months after implant placement the implants were restored with a porcelain-fused-to-metal fixed partial denture. The use of implant-supported fixed partial dentures to restore missing teeth in patients with ARS provides biological and mechanical advantages over conventional, fixed, or removable prosthodontics. Further evaluation is needed to determine the longevity and long-term prognosis of dental implants in patients with ARS.

Non surgical management of type II dens invaginatus with open apex: A case report

Non surgical management of type II dens invaginatus with open apex: A case report - IJCE- Print ISSN No: - 2581-9534 Online ISSN No:- 2581-8988 Article DOI No:- 10.18231/2456-8953.2019.0007, IP Indian Journal of Conservative and Endodontics-IP Indian J Conserv Endod

Dental aspects of hearing impairment in children – aetiology, classifications, diagnostic programmes, rehabilitation. A literature review

A literature review was performed to present the epidemiology of hearing impairment both worldwide and in Poland. Pre-and postnatal risk factors were assessed. The paper presents classifications of hearing impairment considering different factors, as well as the method of neonatal hearing screening in Poland. Diagnostic, therapeutic and rehabilitation methods for patients with hearing loss were described. The paper further describes oral health in deaf and hardly hearing children in Poland and worldwide, as well as implications of hearing impairment on the masticatory organ. Several factors, such as insufficient hygiene, contribute to high caries frequency and gingivitis in children with hearing impairment. Missing or malformed teeth and malocclusions pose a great challenge for dentists. Furthermore, the work draws attention to the psychological aspect of the development of children with hearing impairment. The communication barrier during a dental visit attended by a hearing-impaired child, as well as the need for appropriate training for medical personnel, which could contribute to improved oral health, are emphasised.

SATB2-associated syndrome (SAS) and associated dental findings.

Identify, diagnose, and document oral clinical and radiographic evidence associated with the genetic condition known as special AT-rich sequence-binding protein 2 (SATB2)-associated syndrome. Through identifying and publishing these common dental and behavioral findings, we hope to educate oral and medical healthcare providers to identify this condition in an attempt to develop meaningful comprehensive care to this patient population. A total of 37 patients (19 female), ranging from ages 2 to 20 were evaluated at Arkansas Children's Hospital in Little Rock, Arkansas. Patient geographic distribution included: the United States, Canada, Portugal, Spain, and the Netherlands. Patients were clinically and radiographically examined for oral findings. Panoramic radiographs were obtained when patient's behavior allowed. Patient's parents or guardians were also interviewed concerning dental, medical, and behavioral histories. Clinical findings included delayed tooth eruption, bruxism, sialorrhea, larger than normal teeth with an increased propensity for maxillary anterior tooth trauma due to unsteady ambulation. Radiographic findings included delayed permanent root formation, significantly delayed or missing second bicuspids, malformed teeth, and taurodontism. Medical and behavioral issues included: insomnia, hyperphagia, cognitive delays, and an extremely high pain threshold. Patients with SATB2-associated syndrome have shown to have a consistent and unique set of dental findings both clinically and radiographically. A thorough health and dental history along with the aforementioned results of the study may facilitate a diagnosis of this syndrome. Due to the complexity of the patient's dental needs and behavior, a health practitioner with special needs care experience on a comprehensive craniofacial team would be optimal.

Multidisciplinary Management of Maxillary Regional Odontodysplasia

This case report describes the multidisciplinary clinical management of a male patient, diagnosed at the age of 7, with Regional Odontodysplasia of the right maxilla. Following fixed orthodontic treatment to align his teeth, extraction of malformed teeth and subsequent bone grafting, the patient was successfully rehabilitated with implant-supported bridgework of a hybrid design to replace the teeth in the right maxillary quadrant. Clinical steps, as well as the complexities of this particular case, will be described. CPD/Clinical Relevance: This case highlights the need for a multidisciplinary team approach to provide comprehensive care for patients with complex dental anomalies.

Occlusal Rehabilitation in a Patient with Oligodontia and Microdontia using Implants and Full-Ceramic Restorations: A Clinical Report.

Oligodontia is the agenesis of six or more permanent teeth, excluding the third molars. Multidisciplinary dental treatments should be performed sequentially due to the restoration requirements for good oral function, aesthetics and self-confidence of patients. In this study, we report a case using dental implants and full-ceramic prostheses to restore the absent and malformed teeth in a patient with agenesis of 18 permanent teeth and with some primary teeth retained. The dental sequential treatments began when she was 16 years old, and she wore removable partial dentures for 4 years with unsatisfying restoration outcome. When she became an adult, dental implants and full-ceramic prostheses were used to restore the absent and malformed teeth. Finally, the patient was very satisfied with the functional and aesthetic outcomes of the prosthetic treatment.

A de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia.

In this study, we present a detailed phenotype description and genetic elucidation of the first case of X-linked hypohidrotic ectodermal dysplasia in the shorthaired standard Dachshund. This condition is characterized by partial congenital hypotrichosis, missing and malformed teeth and a lack of eccrine sweat glands. Clinical signs including dental radiographs and histopathological findings were consistent with ectodermal dysplasia. Pedigree analysis supported an X-recessive mode of inheritance. Whole-genome sequencing of one affected puppy and his dam identified a 1-basepair deletion within the ectodysplasin-A (EDA) gene (CM000039.3:g.54509504delT, c.458delT). Sanger sequencing of further family members confirmed the EDA:c.458delT-variant. Validation in all available family members, 37 unrelated shorthaired standard Dachshunds, 128 further Dachshunds from all other coat and size varieties and samples from 34 dog breeds revealed the EDA:c.458delT-variant to be private for this family. Two heterozygous females showed very mild congenital hypotrichosis but normal dentition. Since the dam is demonstrably the only heterozygous animal in the ancestry of the affected animals, we assume that the EDA:c.458delT-variant arose in the germline of the granddam or in an early embryonic stage of the dam. In conclusion, we detected a very recent de-novo EDA mutation causing X-linked hypohidrotic ectodermal dysplasia in the shorthaired standard Dachshund.

Incontinentia pigmenti – a description of three cases

Incontinentia pigmenti (IP) or the Bloch-Sulzberger syndrome is a rare genetic dermatosis that occurs in females, which is classified as an ectodermal dysplasia. Papulovesicular eruptions appear on the skin in the first days of a patient’s life and then, with the lapse of time they become verrucous and hyperpigmentation lesions evolving into incontinentia pigmenti achromians. Apart from such characteristic cutaneous lesions, female patients suffering from incontinentia pigmenti may also present other cutaneous symptoms, as well as motor system and ophthalmological dysfunctions. In 54 per cent of patients dental symptoms are observed, those including mainly hypodontia, pegged teeth and delayed tooth eruption. <b>Aim.</b> The aim of this study was to describe three cases of female patients diagnosed with the IP syndrome who were being treated in the Department of Orthodontics of the Medical University of Warsaw. <b>Case descriptions.</b> Descriptions of three cases of female patients with diagnosed IP were presented. The patients had cutaneous lesions typical for IP. Medical interviews and physical examinations were conducted with them all; radiographs were performed and diagnostic casts were made. Class III malocclusions were diagnosed as well as dental abnormalities characteristic for IP (hypodontia, malformation of teeth). Conclusions. An early diagnosis allows for a child to receive a multispecialist medical and dental care. An interdisciplinary approach makes it possible to reach, functionally and esthetically, satisfactory results in the treatment and maintain patients’ teeth in good health until the period of adultness thus ensuring that the physical and mental state of female patients affected by the syndrome improves.

Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography.

In X-linked hypohidrotic ectodermal dysplasia (XLHED), dysfunction of ectodysplasin A1 (EDA1) due to EDA mutations results in malformation of hair, teeth, and sweat glands. Hypohidrosis, which can cause life-threatening hyperthermia, is amenable to intrauterine therapy with recombinant EDA1. This study aimed at evaluating tooth germ sonography as a noninvasive means to identify affected fetuses in pregnant carrier women. Sonography, performed at 10 study sites between gestational weeks 18 and 28, led to the diagnosis of XLHED if fewer than six tooth germs were detected in mandible or maxilla. The assessment was verified postnatally by EDA sequencing and/or clinical findings. Estimated fetal weights and postnatal weight gain of boys with XLHED were assessed using appropriate growth charts. In 19 of 38 sonographic examinations (23 male and 13 female fetuses), XLHED was detected prenatally. The prenatal diagnosis proved to be correct in 37 cases; one affected male fetus was missed. Specificity and positive predictive value were both 100%. Tooth counts obtained by clinical examination corresponded well with findings on panoramic radiographs. We observed no weight deficits of subjects with XLHED in utero but occasionally during infancy. Tooth germ sonography is highly specific and reliable in detecting XLHED prenatally.

Developmental outcomes in children with congenital cerebellar malformations

Neurodevelopmental outcomes in children with congenital cerebellar malformations (CCMs) remain poorly defined. We aimed to assess whether specific neuroimaging features in CCM patients correlate with neurodevelopmental outcomes. Hospital records and neuroimaging of 67 children with CCMs were systematically reviewed. Logistic regression analyses were used to assess associations between specific imaging features and neurodevelopmental outcomes. CCM categories were distributed as follows: 28 percent isolated vermis hypoplasia (n=19), 28 percent global cerebellar hypoplasia (n=19), 15 percent Dandy-Walker malformation (n=10), 13 percent pontocerebellar hypoplasia (PCH, n=9), 9 percent molar tooth malformation (n=6), 3 percent rhombencephalosynapsis (n=2), and 3 percent unilateral cerebellar malformation (n=2). Overall, 85 percent (55/65) of the cohort had global developmental delay (GDD). Intellectual disability was present in 61 percent (27/43) and autism spectrum disorder (ASD) in 12 percent (6/52). Adjusting for supratentorial malformations and presence of genetic findings, severe GDD was associated with cerebellar hypoplasia (p=0.049) and PCH (p=0.030), whereas children with vermis hypoplasia were less likely to have severe GDD (p=0.003). Presence of supratentorial abnormalities was not significantly associated with worse neurodevelopmental outcome but was associated with epilepsy. Children with CCMs have high prevalence of neurodevelopmental deficits. Specific features on imaging can aid prognostication and establish early intervention strategies. Atypical long-term neurodevelopmental outcome is very common in patients with congenital cerebellar malformations (CCMs). Involvement of the brainstem and cerebellar hemispheres predicts more severe neurodevelopmental disability. Most patients with vermis hypoplasia have language delay but are verbal. Supratentorial abnormalities are not significantly associated with worse neurodevelopmental outcome but are associated with epilepsy. Comorbidities are common in CCMs, especially ophthalmological issues in cerebellar hypoplasia and sensorineural hearing loss in pontocerebellar hypoplasia.

Esthetic rehabilitation of anterior teeth with different thicknesses of porcelain laminate veneers: An 8-year follow-up clinical evaluation

This clinical report describes an 8-year follow-up evaluation using different thicknesses of porcelain laminate veneers of diastema and malformed anterior teeth. Minimally invasive treatment with no preparation or minimal reduction options could be considered and chosen based on the characteristics of each case. Laminate veneers with or without reduction can offer an excellent result regarding esthetics and function. Despite its failure without reduction, this treatment is indicated because it can be applied regardless of the structure of the teeth. At first, no tooth preparation with rotatory instruments was performed, and porcelain laminates of minimum thickness were made for the four maxillary anterior teeth. After 6 years, the adhesive interfaces were stained, and the patient was unsatisfied with the esthetics of her smile. Therefore, at that time, the professional decided to prepare the anterior teeth for porcelain laminate veneers. Diastema closure and/or correction of malformed anterior teeth using porcelain laminate veneers is a viable option for the clinician because it restores esthetic harmony. The patient was very pleased with the new laminate veneers.

Child cancers: managing the complications of childhood chemotherapy in the adult dentition

Abstract: Young children who are unfortunate enough to suffer from a malignant disease are often treated with chemotherapy. This selectively toxic treatment keeps them alive but, in many cases, the effects on the developing dental structures can be very serious. Robust evidence is limited on how to manage the dental issues of the surviving patients later on in their lives. This article demonstrates some interesting malformations of teeth produced by the malignant disease or by the chemotherapy early in life. It offers some pragmatic ideas on solving some of these dental problems without destroying the already much reduced tooth tissue. CPD/Clinical Relevance: This article enables clinicians to appreciate the long-term effects of chemotherapy on the dental development of young cancer victims and outlines subsequent management using minimally destructive, pragmatic, bonded composite restorations.