Analysis of congenital deciduous teeth absence and its permanent teeth phenotype / 华西口腔医学杂志

OBJECTIVES@#This study aimed to investigate the clinical characteristics of congenital deciduous teeth absence and its permanent teeth performance type by using panoramic radiographs.@*METHODS@#A total of 15 749 panora-mic radiographs of 3-6-year-old children with deciduous dentition were collected from January 2020 to December 2021. The incidence of congenital deciduous teeth absence was observed, and the abnormality of permanent teeth was recor-ded. SPSS 24.0 software was used for statistical analysis.@*RESULTS@#The incidence of congenital deciduous teeth absence was 2.54% (400/15 749), which was found in 217 girls and 183 boys, and the difference between the genders was statistically significant (P=0.003). The absence of one and two deciduous teeth accounted for 99.75% (399/400) of the subjects. In addition, 92.63% (490/529) of mandibular deciduous lateral incisor was congenitally absent, 44.80% (237/529) of deciduous teeth was absent in the left jaw, and less than 55.20% (292/529) was absent in the right; the difference between them was statistically significant (P=0.017). The absence of 96.41% (510/529) deciduous teeth in the mandibular was significantly more than that of 3.59% (19/529) in the maxillary, and the difference between was statistically significant (P=0.000). Furthermore, 68.00% (272/400) and 32.00% (128/400) of deciduous teeth were absent in unilateral and bilateral, respectively, and the difference was statistically significant (P=0.000). Four types of congenital deciduous teeth absence with permanent teeth were observed as follows: 1) 73.91% (391/529) of permanent teeth was absent; 2) 20.60% (109/529) of permanent teeth was not absent; 3) the number of fused permanent teeth accounted for 4.91% (26/529); 4) the number of supernumerary teeth was 0.57% (3/529).@*CONCLUSIONS@#Although the absence of congenital deciduous teeth is less common than that of permanent teeth, it affects deciduous and permanent teeth to some extent. Dentists should pay attention to trace and observe whether abnormalities are present in the permanent teeth and take timely measures to maintain children's oral health.

Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses / 中华儿科杂志

Objective: To analyze the clinical and genetic characteristics of pediatric patients with dual genetic diagnoses (DGD). Methods: Clinical and genetic data of pediatric patients with DGD from January 2021 to February 2022 in Peking University First Hospital were collected and analyzed retrospectively. Results: Among the 9 children, 6 were boys and 3 were girls. The age of last visit or follow-up was 5.0 (2.7,6.8) years. The main clinical manifestations included motor retardation, mental retardation, multiple malformations, and skeletal deformity. Cases 1-4 were all all boys, showed myopathic gait, poor running and jumping, and significantly increased level of serum creatine kinase. Disease-causing variations in Duchenne muscular dystrophy (DMD) gene were confirmed by genetic testing. The 4 children were diagnosed with DMD or Becker muscular dystrophy combined with a second genetic disease, including hypertrophic osteoarthropathy, spinal muscular atrophy, fragile X syndrome, and cerebral cavernous malformations type 3, respectively. Cases 5-9 were clinically and genetically diagnosed as COL9A1 gene-related multiple epiphyseal dysplasia type 6 combined with NF1 gene-related neurofibromatosis type 1, COL6A3 gene-related Bethlem myopathy with WNT1 gene-related osteogenesis imperfecta type XV, Turner syndrome (45, X0/46, XX chimera) with TH gene-related Segawa syndrome, Chromosome 22q11.2 microduplication syndrome with DYNC1H1 gene-related autosomal dominant lower extremity-predominant spinal muscular atrophy-1, and ANKRD11 gene-related KBG syndrome combined with IRF2BPL gene-related neurodevelopmental disorder with regression, abnormal movement, language loss and epilepsy. DMD was the most common, and there were 6 autosomal dominant diseases caused by de novo heterozygous pathogenic variations. Conclusions: Pediatric patients with coexistence of double genetic diagnoses show complex phenotypes. When the clinical manifestations and progression are not fully consistent with the diagnosed rare genetic disease, a second rare genetic disease should be considered, and autosomal dominant diseases caused by de novo heterozygous pathogenic variation should be paid attention to. Trio-based whole-exome sequencing combining a variety of molecular genetic tests would be helpful for precise diagnosis.

Ameloblastic fibro-odontoma in an unusual area of the maxilla: two case reports / Fibro-odontoma ameloblástico en una región inusual de los maxilares: reporte de dos casos

Ameloblastic fibro-odontoma (AFO) is a mixed odontogenic tumor, which has an epithelial and mesenchymal component. It can be observed in imaging tests as a radiomixed lesion, with some authors claiming it represents only the predecessor of an odontoma. Epidemiologically, it appears between the second and third decade of life, predominantly in males and with a predilection for the posterior area of the mandible. This lesion presents a good prognosis and it responds well to enucleation by curettage with a low rate of recurrence. In the present article, two cases of ameloblastic fibro-odontoma in an unusual region of the maxilla are presented.

El Fibro-odontoma ameloblástico (FOA), es una lesión tumoral mixta de origen odontogénico, el cual tiene un componente epitelial y mesenquimático. En su imagenología se observa como una lesión radiomixta, debido a que algunos autores afirman que este no es más que el predecesor de un odontoma. Epidemiológicamente, se presenta entre la segunda y tercera década de la vida, preferencia por sexo masculino y predilección por el área posterior de la mandíbula. Es una lesión de buen pronóstico que responde bien a la enucleación por curetaje con baja tasa de recidiva. En el presente artículo, se presentan dos casos de fibro-odontoma ameloblástico en una región inusual de los maxilares.

Williams-Beuren Syndrome: What Orthodontists Need to Know / Síndrome de Williams-Beuren: Lo que los Ortodoncistas Deben Saber

ABSTRACT: Williams-Beuren syndrome is a rare disease with manifestations such as cardiovascular changes, distinct facial features, mental retardation, and learning disabilities. Oral manifestations are not commonly described and can often be misdiagnosed. This report describes the case of a male patient diagnosed with Williams-Beuren syndrome presenting classic clinical features that affect the face as a convex profile, with maxillary protrusion and mandibular retrusion, a discreetly acute nasolabial angle, passive labial sealing, and an open mandibular angle characteristic of Class II skeletal pattern. In addition, the patient has oral manifestations such as the absence of some dental elements, a Class II of Angle 1st division, dental cross bite, and atresic arches. The periodontal condition presents with generalized gingivitis. Knowledge about the possible manifestations of Williams-Beuren syndrome is important to improve the ability of orthodontists to better serve these patients.

RESUMEN: El síndrome de Williams-Beuren es una enfermedad rara con manifestaciones tales como cambios cardiovasculares, diversas características faciales, retraso mental y problemas de aprendizaje. Las manifestaciones orales no se describen comúnmente y con frecuencia se pueden diagnosticar erróneamente. Este informe describe el caso de un paciente masculino diagnosticado con síndrome de Williams-Beuren que presentaba características clínicas clásicas que afectaban la cara como un perfil convexo, con protrusión maxilar y retrusión mandibular, un ángulo nasolabial discretamente agudo, sellado labial pasivo y un ángulo mandibular abierto característico del patrón esquelético clase II. Además, el paciente presentaba manifestaciones orales tales como, ausencia de algunos elementos dentales, una clase II de Angle 1ª división, mordida dental cruzada y arcos acrílicos. La condición periodontal se presentaba con gingivitis generalizada. El conocimiento sobre las posibles manifestaciones del síndrome de Williams-Beuren es importante ya que mejora la capacidad de los ortodoncistas para atender mejor a estos pacientes.

Risk of developing palatally displaced canines in patients with early detectable dental anomalies: a retrospective cohort study

ABSTRACT The early recognition of risk factors for the occurrence of palatally displaced canines (PDC) can increase the possibility of impaction prevention. Objective To estimate the risk of PDC occurrence in children with dental anomalies identified early during mixed dentition. Material and Methods The sample comprised 730 longitudinal orthodontic records from children (448 females and 282 males) with an initial mean age of 8.3 years (SD=1.36). The dental anomaly group (DA) included 263 records of patients with at least one dental anomaly identified in the initial or middle mixed dentition. The non-dental anomaly group (NDA) was composed of 467 records of patients with no dental anomalies. The occurrence of PDC in both groups was diagnosed using panoramic and periapical radiographs taken in the late mixed dentition or early permanent dentition. The prevalence of PDC in patients with and without early diagnosed dental anomalies was compared using the chi-square test (p<0.01), relative risk assessments (RR), and positive and negative predictive values (PPV and NPV). Results PDC frequency was 16.35% and 6.2% in DA and NDA groups, respectively. A statistically significant difference was observed between groups (p<0.01), with greater risk of PDC development in the DA group (RR=2.63). The PPV and NPV was 16% and 93%, respectively. Small maxillary lateral incisors, deciduous molar infraocclusion, and mandibular second premolar distoangulation were associated with PDC. Conclusion Children with dental anomalies diagnosed during early mixed dentition have an approximately two and a half fold increased risk of developing PDC during late mixed dentition compared with children without dental anomalies.

Reabilitação do incisivo central decíduo fusionado ao supranumerário: relato de caso clínico / Primary maxillary right central incisor fused to supernumerary: case report

diagnosticadas precocemente. Este trabalho teve como finalidade relatar o caso clínico de uma paciente de três anos, gênero feminino, cuja queixa principal era a estética dos dentes anteriores superiores,devido ao tamanho desproporcional de um elemento dentário, que se apresentava também com coloração alterada. Ao exame clínico e radiográfico diagnosticou-se uma anomalia denominada fusão dentária, união de dois dentes adjacentes, na região anteros superior. O tratamento consistiu na secção dos dois dentes e exodontia do supranumerário, seguida do tratamento restaurador do incisivo central direito que apresentava lesão de cárie. Concluiu-se que, por meio de adequado diagnóstico e planejamento, o tratamento proposto foi efetivo na reabilitação da função e da estética,assim como na prevenção de complicações clínicas e ortodônticas que poderiam advir da anomalia dentária descrita, caso não tratada. A autoestima da criança foi restabelecida.

Dental anomalies can cause serious disorders in the development of teeth if not diagnose dearly. This study aimed to report a case of a three-year-old patient, female, who together with her responsible, whose main complaint was the aesthetics of the upper front teeth due to disproportionatesize and altered staining. During the clinical and radiographic examinations, ananomaly called teeth merger, which is the union of two adjacent teeth, was diagnosed in the upper anterior region. The treatment included the sectioning of the two teeth and extraction of the super numerary, followed by restorative treatment of the right central incisor that had caries lesions. It was concluded that, through proper diagnosis and planning, the proposed treatment was effective in the rehabilitation of function and aesthetics, as well as in the prevention of clinical and orthodontic complications that could result from the dental anomaly described, ifuntreated. The child’s self-esteem was re-established.

Multiple Talon Cusps: A Rare Case Report.

Talon cusp is a very rare developmental anomaly, arising as a cusp like elevation on the lingual aspect of maxillary or mandibular anterior teeth, usually projects from the cemento-enamel junction or cingulum. It can involve single tooth, either primary or permanent dentition, usually unilateral in occurrence and seen bilaterally in 1/5th of the cases. It can result in a host of clinical problems like occlusal interference, irritation of the tongue, pulpal necrosis, caries, TMJ disorders and periodontal problems. The prevalence of multiple, bilateral talon cusp occurrence is rare, we report a case of Multiple Talon cusps involving all maxillary anterior teeth.

Management of lateral incisor with palatal radicular groove.

Palatal radicular grooves are developmental anomalies of maxillary incisors, which contribute to localized periodontitis resulting in loss of anterior teeth. Palatal radicular grooves, when present, act as a site for plaque accumulation and periodontal infection. They are easily overlooked as etiologic factors, as these grooves are covered by periodontal tissues. The clinician has to be alert and check for variations in the anatomy of the tooth as a cause of pulp necrosis in the anterior segment of the tooth, when other causes are ruled out. Recognition of palatal radicular grooves is critical, especially because of its diagnostic complexity and the problems that may arise if it is not properly interpreted and treated. This case report describes the diagnosis and management of a maxillary lateral incisor with necrotic pulp and localized periodontal destruction, associated with a palatal radicular groove.

Multiple dental anomalies and aggressive periodontitis: A coincidence or an association.

Aggressive periodontitis (AgP) comprises a group of rare, often severe, rapidly progressive forms of periodontitis mostly characterized by an early age of clinical manifestation and a distinctive tendency for cases to aggregate in families. Abnormal dental morphology and position have been associated with severe periodontal diseases. The purpose of this paper is to report a case of multiple dental anomalies associated with AgP. This paper reports a case of unusual association of multiple dental anomalies to AgP. Clinical findings and history led to the diagnosis of localized AgP, and radiologically. It was associated with multiple dental anomalies, especially supernumerary roots. Thus, the present case represents a very interesting demonstration of AgP association with supernumerary roots and the nature of this association merits further investigations.

[Prevalence of missing and supernumerary teeth in 3-5 years-old, kindergarten children of Tehran]

Missing and supernumerary teeth are considered as dental developmental anomalies. These anomalies may lead to problems and complications such as dental asymmetry, poor esthetics, midline shift, dental crowding, malocclusions, caries, diastema, ectopic eruption, impactions, delayed eruption, external root resorption as well as loss of adjacent tooth's vitality in some cases. The aim of this study was to investigate the prevalence of missing and supernumerary teeth in 3 to 5 years old kindergarten children of Tehran in 2005. This cross-sectional study was conducted by oral examination of 1000 children. Kindergartens were randomly selected in three major areas of Tehran province, namely Rey, Tehran-city and Shemiranat regions. Oral examination was carried out by counting the teeth under adequate lighting. The prevalence of supernumerary and missing teeth in this study was 0.3% and all the anomalies were observed in boys. All cases of supernumerary teeth were in maxilla. From the three cases with missing teeth, two cases were in the maxilla [83%] and one case in the mandible. The anomalies observed in two samples occurred unilaterally in the lateral incisors [67%].Since missing and supernumerary primary teeth may lead to problems in the permanent dentition, early diagnosis and continuous monitoring of successors seem to be necessary to avoid further problems and therefore complicated treatments

Ectodermal dysplasia with alopecia, onychodysplasia, hypohidrosis, keratoderma, abnormal teeth and deafness.

The ectodermal dysplasias are a heterogeneous group of disorders with primary defect in hair, teeth, nail and sweat gland function. Numerous types have been described and several classifications exist. Here, we present a patient with ectodermal dysplasia with alopecia, dysplastic nails, hypohidrosis, sensorineural deafness, palmoplantar keratoderma, abnormal teeth and dry skin. To our knowledge, combination of all these features in ectodermal dysplasia has not been reported in the past. The etiology is unknown, but consanguinity of parents points to an autosomal recessive inheritance.

Dental anomalies in patients with down syndrome

The purpose of the present study was to evaluate the incidence of dental anomalies in Brazilian patients with Down syndrome. A sample with 49 panoramic x-rays of syndromic patients aged 3 to 33 years (22 male and 27 female) was used. The characteristics of dental anomalies were observed in the panoramic radiographs in both the primary and permanent dentition, according to the ICD (International Classification of Diseases). The corresponding tables and percentile analysis were elaborated. There was a high incidence of syndromic patients with different types of anomalies, such as taurodontism (50 percent), proven anodontia (20.2 percent), suspected anodontia (10.7 percent), conic teeth (8.3 percent) and impacted teeth (5.9 percent). In conclusion, patients with Down syndrome presented a high incidence of dental anomalies and, in most cases, the same individual presented more than one dental anomaly.

O objetivo do presente estudo foi avaliar a incidência de anomalias dentárias em indivíduos brasileiros portadores de síndrome de Down. A amostra constou de 49 radiografias panorâmicas de indivíduos portadores com idade entre 3 e 33 anos, 22 do sexo masculino e 27 do sexo feminino. As características radiográficas das radiografias panorâmicas das anomalias dentárias foram observadas tanto nos dentes decíduos quanto permanentes de acordo com CID (Classificação Internacional de Doenças). Foi encontrada uma alta incidência dos mais variados tipos de anomalias, tais como taurodontismo (50 por cento), anodontia comprovada (20,2 por cento), suspeita de anodontia (10,7 por cento), dentes cônicos (8,3 por cento), dentes retidos (5,9 por cento) e outras. Pela análise dos resultados pode-se observar que os indivíduos portadores de síndrome de Down apresentaram uma alta incidência de anomalias dentárias e, na maioria dos casos, um mesmo indivíduo apresentou mais de uma anomalia associada.

Incontinentia pigmentii acromians with seizure disorder: a case report.

Incontinentia pigmentii acromians (IPA) is a bizarre, irregularly shaped leukoderma of the trunk and extremities, characterized by marble cake-like whorls or streaks of hypopigmentation whose distribution can be unilateral or bilateral. Mode of inheritance is most consistent with an autosomal dominant type and in majority of the cases, one or more anomalies are present involving dermatological, dental and ocular disorders. A case of a female child, aged 2 1/2 yrs, referred from Pediatric neurology department, Medical College, Trivandrum with Incontinentia pigmentii acromians and seizure disorder is reported. Hamartomatous dental cusps and single maxillary central incisors have been associated with Incontinentia pigmentii acromians. A case of Incontinentia pigmentii acromians with hypoplastic teeth and tongue abnormalities is presented.

Prevalencia de anomalías dentomaxilares, caries y fluorosis en niños del área sur de la región metropolitana / Prevalence of dentomaxillary anomalies, caries and fluorosis in children from southern area of the metropolitan region, Chile

Se realizó un estudio de anomalías dentomaxilares, caries y fluorosis en niños y adolescentes del Area Sur de la Región Metropolitana. Los exámenes clínicos fueron realizados sobre muestras representativas de niños de 5, 12 y 14-15 años, pertenecientes a niveles socio-económicos medio, medio-bajo. Se diagnosticó y registró prevalencia de anomalías dentomaxilares en niños de 5 años (dentición temporal) y se diagnosticó y registró prevalencia de caries y fluorosis en los tres grupos etáreos. Casi el 70 por ciento de los pre-escolares examinados presentó 1 o más anomalías dentomaxilares. Se sugiere intensificar programas de educación y prevención e intercepción de anomalías dentomaxilares en niños pre-escolares. El valor encontrado para el índice de caries coed fue 4.1, considerado moderado de acuerdo a criterios internacionales. Los índices COPD del grupo 12 años (2.8), y del grupo 14-15 años (3.7) se consideran bajos y comparables a los índices correspondientes informados para Europa y EE.UU. Los índices de fluorosis comunitaria se encontraron dentro de límites razonables y es posible concluir que su más probable causa sea la ingesta involuntaria de una fracción de los colutorios fluorados que se vienen aplicando semanalmente en los establecimientos educacionales estudiados. Se estima que este programa de prevención ha contribuido el mejoramiento en la prevalencia de caries de los alumnos de las escuelas básicas estudiadas

Anomalías orofaciales en pacientes con síndrome de Down en una muestra de población chilena / Oro-facial anomalies in patients with Down's syndrome in a chilean population pattern

Se examinaron 69 pacientes con síndrome de Down de población escolar chilena y 68 pacientes con retardo mental no asociado con síndrome de Down, los que constituyeron el grupo control. Con el objeto de determinar las anomalías existentes en cuanto a salud oral en los enfermos con síndrome de Down, en ambos grupos se analizó estado de la mucosa en ambos maxilares, configuración palatina, presencia o ausencia de torus, tipo dentición, presencia de caries, piezas dentarias fusionadas, anomalías de posición, ausencia de piezas dentarias, alterción del desarrollo mandibular, características linguales y frecuencia de cepillado. Los resultados obtenidos indican que existen importantes diferencias en los parámetros estudiados, con respecto a lo indicado en la literatura en pacientes con síndrome de Down de origen étnico diferente. Las anomalías dentarias de posición y el prognatismo son significativamente más frecuentes en pacientes con síndrome de Down que en niños con retardo mental de otras causas: 59,42% vs 32,35%,p=0,001 y 39,21%vs5,64%, p=0,001 respectivamente

Dental crown variants in children and young adults with Down syndrome

El propósito de este trabajo consiste en describir la naturaleza y frecuencia de las variantes morfológicas de las coronas en la dentición de pacientes con el Síndrome de Down. Dieciocho variantes fueron registradas en la dentición temporaria y permanente en los 147 pacientes con el Síndroem de Down y 47 en los retardados que no presentaban el Síndrome de Down. Estos casos fueron comparados con 250 pacientes normales que sirvieron de controles en el estudio. Para los casos de pacientes con el Síndrome de Down el 90% mostró al menos una variante en la corona y el 47% mostró tres o más. Para los casos de retardados sin el Síndrome de Down el 74% registró al menos una variante y el 13% o tres o más. Para el grupo control el 24% mostró al menos una variación de solamente un 1% mostrando más de tres. Las variantes más comunes de las coronas de los pacientes con el Síndrome de Down correspondieron a las superficies labiales de los dientes, anteriores y bordes incisales; alteraciones de las cúspides inclinadas de los caninos; falta o reducción distolingual de las cúspides de los molares maxilares y desplazamiento distal de las cúspides de los molares mandibulares