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1.
Gen Dent ; 72(1): 43-45, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38117640

RESUMO

The odontoma is regarded as a hamartomatous process of the jaws. Most are discovered as an incidental radiographic finding, averaging 15 mm in size. This report describes a case of a diminutive odontoma that was surgically removed before the onset of eruptive and pathologic consequences. A compilation of documented complications and syndromes associated with odontomas is also presented.


Assuntos
Odontoma , Criança , Humanos , Odontoma/diagnóstico por imagem , Odontoma/cirurgia , Erupção Dentária
2.
Pediatr Dev Pathol ; 26(6): 583-595, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38032744

RESUMO

Odontogenic tumors are rare tumors of the jaws that arise from remnants of the tooth forming apparatus. Some odontogenic tumors demonstrate strong predilection for pediatric patients including the unicystic ameloblastoma, adenomatoid odontogenic tumor, ameloblastic fibroma, ameloblastic fibro-odontoma, odontoma, and primordial odontogenic tumor. In this review, we discuss the clinical, radiographic, histopathologic, and molecular characteristics of select odontogenic tumors that demonstrate pediatric predilection and review management.


Assuntos
Ameloblastoma , Tumores Odontogênicos , Odontoma , Humanos , Criança , Tumores Odontogênicos/diagnóstico , Tumores Odontogênicos/patologia , Ameloblastoma/diagnóstico , Ameloblastoma/patologia , Odontoma/diagnóstico , Odontoma/patologia
3.
BMC Vet Res ; 19(1): 12, 2023 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-36658593

RESUMO

Macrodontia is the enlargement of tooth dimensions of different ethologies. This work aims to show a histological evaluation of macrodontic teeth in guinea pigs. The material was obtained from animals postmortem. Ninety structural changes derived from 24 guinea pigs were evaluated. All teeth used in the study showed macrodontic changes. The samples were decalcified, dehydrated and embedded in paraffin. Material was cut in the transverse and longitudinal planes in relation to the alveolar bone. Histological evaluation included apical bud cells, pulp cavity cells, periodontium, dentin, enamel, cementum and alveolar bone tissue. Individual elements were evaluated with respect to their morphology and distribution. Moreover, the arrangement of the individual hard tooth structures was assessed on the teeth. No atypia was found among the cells that make up the apical bud, pulp or periodontal cavity. Displacement of periodontal cells or odontoblasts towards the pulp cavity as well as disorganization of the cell system in the pulp cavity were observed. Changes in the dentine ligaments and the reconstruction of the alveolar bone were also observed in areas where dentine and cement systems were affected. Dental slides were observed and showed that the enamel is also involved in structural remodelling of the pulp cavity. The histological assessment revealed that structural changes in macrodontic teeth involve the rearrangement of typical tooth tissues.


Assuntos
Dente , Cobaias , Animais , Bochecha , Dente/anatomia & histologia , Osso e Ossos , Polpa Dentária
4.
Oral Dis ; 2023 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-38129744

RESUMO

OBJECTIVES: This study aimed to assess the epidemiological and three-dimensional (3D) radiological characterizations of odontomas, as well as the spatial relationship between odontomas and gubernaculum tracts (GT). MATERIALS AND METHODS: We retrieved the cone-beam computed tomography (CBCT) data of 87,590 patients. Dentition, location, type, diameter of the odontomas, width of the dental follicle (DF), the spatial relationship between the odontoma and GT, and the influence on adjacent teeth were evaluated. RESULTS: Significant differences were found in age, dentition, location, Max/Min diameter, width of DF, impaction, retention, and root bending of adjacent teeth among different spatial relationships between the odontoma and GT (all p < 0.05), as well as in age, type and size, absence, impaction, malposition, and retention of adjacent teeth among different locations of odontomas (all p < 0.05). Compared to the odontomas without impaction, those with impaction had larger diameter (p < 0.05 in all directions). This statistically significant association was consistent for odontomas with malposition, while no similar result was observed in the maximum diameter. CONCLUSION: Our findings provide the preliminary data for clinicians to comprehensively understand the incidence, radiographic characterizations and symptoms of odontoma in Chinese population.

5.
Fetal Pediatr Pathol ; 42(2): 281-284, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35748698

RESUMO

Introduction: Ameloblastic fibro-odontoma (AFO) is a benign odontogentic tumor without an aggressive behavior, unlike the similar ameloblastic fibroma. Case Presentation: A 9-year-old boy, with tooth eruption failure, underwent enucleation and curettage of a well-defined variable radiolucent and radio-opaque right mandible lesion. There was odontogenic epithelium with peripheral palisading in a loose myxoid stroma as well as a disorganized component of dentin, enamel, and cementum, features of an AFO. Conclusion: AFO is an odontogenic mixed tumor of epithelium and mesenchyme.


Assuntos
Neoplasias Mandibulares , Odontoma , Masculino , Humanos , Criança , Odontoma/diagnóstico , Odontoma/cirurgia , Neoplasias Mandibulares/diagnóstico , Neoplasias Mandibulares/cirurgia , Neoplasias Mandibulares/patologia , Epitélio/patologia , Cabeça/patologia , Tecido Conjuntivo/patologia
6.
J Clin Pediatr Dent ; 47(1): 67-73, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36627222

RESUMO

This study aimed to identify the frequency of complications during the diagnosis, observation, and treatment of supernumerary teeth or odontomas and evaluate the relationship between complications and the timing of surgical intervention. This study was conducted based on data from the Korea Health Insurance Review and Assessment Service between January 2008 and December 2019. A 2-year washout period was applied, and a follow-up period of at least 2 years was also included. During the observation period, the age at diagnosis of supernumerary teeth and odontomas was analyzed using major diagnostic codes, and the treatment codes were used to determine the interval between diagnosis and surgical intervention. The incidence rates of supernumerary teeth (1.21%) and odontomas (0.36%) were comparable to that reported in previous studies. The frequency of supernumerary teeth was the highest in the anterior region, followed by the premolar and molar regions. The average ages at diagnosis according to the location of the supernumerary teeth were 7.25, 13.98, and 16.11 years in the anterior, premolar, and molar regions, respectively. The age at diagnosis correlated with the maturity period of the teeth at the corresponding location. For the supernumerary tooth group, surgical intervention was more likely to occur when malocclusion (p < 0.0001) or tooth eruption disturbances (p < 0.0001) were present or dentigerous cysts were absent (p = 0.006). For the odontoma group, malocclusion (p = 0.251) was not correlated with surgical intervention. When tooth eruption disturbances (p = 0.002) and dentigerous cysts (p < 0.0001) were present, surgical intervention was more likely to occur. Pediatric dentists should conduct timely clinical checks and periodic follow-ups to prevent complications and unnecessary orthodontic treatments in patients with supernumerary teeth or odontomas.


Assuntos
Cisto Dentígero , Má Oclusão , Odontoma , Dente Impactado , Dente Supranumerário , Criança , Humanos , Dente Supranumerário/epidemiologia , Dente Supranumerário/cirurgia , Dente Impactado/terapia , Odontoma/epidemiologia , Odontoma/cirurgia , Cisto Dentígero/complicações , Má Oclusão/complicações , Seguro Saúde , República da Coreia/epidemiologia
7.
J Clin Pediatr Dent ; 46(2): 148-151, 2022 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-35533231

RESUMO

We report a rare case of dentinogenic ghost cell tumor (DGCT) associated with complex composite odontoma in a 17 years male affecting the posterior segment of the mandible. On radiographic examination, there was a well-defined multilocular radiolucency surrounding the radio opaque mass with respect to 44, 45 and 46. Histopathologically it showed ameloblastomatous proliferation with dentin like areas and ghost cells. It was associated with tooth like structures consisting of dentin, cementum and pulp like areas. DGCT with odontoma is extremely rare with only two cases being reported in literature till date. The management with its rare occurrence is discussed here.


Assuntos
Ameloblastoma , Tumores Odontogênicos , Odontoma , Humanos , Masculino , Tumores Odontogênicos/diagnóstico por imagem , Tumores Odontogênicos/cirurgia , Odontoma/complicações , Odontoma/diagnóstico por imagem , Odontoma/cirurgia
8.
Dent Traumatol ; 37(4): 653-658, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33512071

RESUMO

Severe intrusion injuries of primary teeth are frequently associated with serious developmental disorders. This report describes the diagnostic procedures and the multidisciplinary approach for multiple sequelae to permanent incisors due to a severe intrusive injury of the primary maxillary anterior teeth at the age of 18 months in a 7-year-old girl. Clinical examination revealed hypoplasia of tooth 22, and radiographic examination showed crown-root malformation of tooth 21, impaction of tooth 11, and the presence of an odontoma-like malformation on tooth 12. The affected tooth 12 had a poor prognosis, as highlighted by CBCT, and it was extracted. While for the impacted 11, a surgical extraction followed by an orthodontic treatment is scheduled. Aesthetic and functional problems were solved by a functional space maintainer using a removable partial denture. The occurrence of multiple abnormalities in permanent teeth as a result of intrusive injuries in the primary dentition enhances the need for creating awareness among dentists not only of the importance of appropriate immediate management of trauma but also of the importance of establishing a long-term follow up and subsequent management of any sequelae.


Assuntos
Anormalidades Múltiplas , Incisivo , Criança , Dentição Permanente , Feminino , Humanos , Incisivo/diagnóstico por imagem , Lactente , Coroa do Dente , Dente Decíduo
9.
West Afr J Med ; 38(9): 903-906, 2021 09 30.
Artigo em Inglês | MEDLINE | ID: mdl-34677920

RESUMO

INTRODUCTION: Odontomas are the most common odontogenic tumors worldwide and are usually chance findings seen on routine dental examinations. However, on progression, they may be associated with adjacent tooth displacement. CASE DESCRIPTION: We report a case of an 11-year-old girl who presented at the Lagos University Teaching Hospital (LUTH) pediatric dental clinic with a complaint of painless enlargement of the left anterior maxilla of 2-years duration. The swelling was located between teeth 21 and 22 and was associated with distal displacement and mesial angulation of tooth 22. Clinical, radiographic and histopathologic investigations revealed a compound odontoma. Surgical exposure and enucleation was done to remove the tumor. The patient's postoperative course and 6 months follow-up were uneventful. CONCLUSION: This report elucidates the importance of routine dental check-ups and minimally traumatic management of odontomas in pediatric dental patients to prevent adverse effects of odontomas, thereby, minimizing the interventions needed after surgical enucleation.


INTRODUCTION: Les odontomes sont les tumeurs odontogènes les plus courantes dans le monde et sont habituellement des découvertes fortuites observées lors des examens dentaires de routine. Cependant, lors de leur progression, ils peuvent être associés à un déplacement des dents adjacentes. DESCRIPTION DU CAS: Nous rapportons le cas d'une jeune fille de 11 ans qui s'est présentée à la clinique dentaire pédiatrique du Lagos University Teaching Hospital (LUTH) pour se plaindre d'un élargissement indolore du maxillaire antérieur gauche depuis deux ans. Le gonflement était situé entre les dents 21 et 22 et était associé à un déplacement distal et à une angulation mésiale de la dent 22. Les examens cliniques, radiographiques et histopathologiques ont révélé un odontome composé. Une exposition chirurgicale et une énucléation ont été effectuées pour retirer la tumeur. L'évolution postopératoire du patient et son suivi à 6 mois se sont déroulés sans incident. CONCLUSION: Ce rapport met en évidence l'importance des contrôles dentaires de routine et de la prise en charge des odontomes par des moyens peu traumatisants chez les patients pédiatriques afin de prévenir les effets indésirables des odontomes et de minimiser ainsi les interventions nécessaires après l'énucléation chirurgicale. Mots clés: Odontome composé, maxillaire antérieur, incisive latérale déplacée.


Assuntos
Odontoma , Criança , Feminino , Hospitais de Ensino , Humanos , Incisivo/diagnóstico por imagem , Incisivo/cirurgia , Maxila/diagnóstico por imagem , Maxila/cirurgia , Nigéria , Odontoma/diagnóstico por imagem , Odontoma/cirurgia
10.
J Contemp Dent Pract ; 22(9): 1060-1062, 2021 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-35000953

RESUMO

AIM: To report a delayed tooth eruption following late surgical removal of a compound odontoma in a 10-year-old child. BACKGROUND: Odontomas are the most common odontogenic tumors. They are usually asymptomatic and discovered during routine radiographic examinations or during an assessment of delayed tooth eruption. Odontomas are classified into compound or complex based on the microscopic structure of dental tissues. Early diagnosis and surgical removal of odontomas is the keyword for favorable results. CASE DESCRIPTION: This paper describes a case of compound odontomas in a 10-year-old boy that prevented eruption of the permanent mandibular lateral incisor. Extraction of mandibular primary lateral incisors and surgical excision of the compound odontomas was performed. After 3 years of follow-up, at the age of 13 years, the permanent lateral incisor erupted and approached the occlusal plane. CONCLUSION: Late surgical removal of odontomas resulted in a delayed eruption of the affected teeth. CLINICAL SIGNIFICANCE: Surgical removal of odontomas and regular follow-up to monitor the eruption of the affected teeth should be considered for the teeth with an open apex before considering orthodontic traction.


Assuntos
Odontoma , Dente Impactado , Adolescente , Criança , Oclusão Dentária , Humanos , Incisivo/diagnóstico por imagem , Masculino , Odontoma/complicações , Odontoma/diagnóstico por imagem , Odontoma/cirurgia , Erupção Dentária , Dente Impactado/diagnóstico por imagem , Dente Impactado/cirurgia
11.
Acta Clin Croat ; 60(1): 146-152, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34588736

RESUMO

Odontomas are benign odontogenic tumors formed from epithelial and mesenchymal cells. They are mostly associated with disorders of tooth eruption, causing impaction and/or delayed tooth eruption, and are an accidental finding on routine radiological examination. The aim of this paper is to present current findings in the etiology and treatment of odontomas, as well as the clinical and radiographic features, describing a case that is rarely found in the literature. A case of multiple complex odontoma in the mandible of an 11-year-old boy is presented, causing impaction of the first permanent right molar, 46. The treatment consisted of surgical enucleation of the multiple complex odontoma with preservation of the impacted tooth, monitoring clinically and radiologically its spontaneous eruption followed by final orthodontic alignment. Odontomas are not an everyday part of clinical practice and given that they are most commonly associated with permanent tooth impaction, it is extremely important to have knowledge of their clinical and radiological features. Early diagnostics and appropriate treatment result in better diagnosis, thus increasing the possibility of preserving the impacted teeth.


Assuntos
Odontoma , Dente Impactado , Criança , Humanos , Masculino , Odontoma/diagnóstico por imagem , Odontoma/cirurgia , Radiografia , Dente Impactado/diagnóstico por imagem , Dente Impactado/cirurgia , Resultado do Tratamento
12.
J Cutan Pathol ; 47(8): 720-724, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32134132

RESUMO

Peripheral odontoma is a very rare odontogenic hamartoma arising in soft tissues. Here, we report a case of peripheral odontoma in a pediatric patient and review the cases published in the literature. An 11-year-old male patient presented a nodular lesion in the anterior region of the palate for over 1 year. Under the clinical hypothesis of fibroma, an excisional biopsy was performed. Histopathological examination revealed the presence of tooth-like structures, formed by enamel, and dentin matrix, occasionally associated with the dental papilla and surrounding pulp tissue, thus, the histopathological diagnosis of peripheral odontoma was established. The patient has been undergoing follow-up for 6 months without any signs of lesion recurrence. Peripheral odontomas are uncommon lesions that usually affect young patients and display a preference for the maxilla and limited growth potential. The recognition of the clinical and histopathological features of the peripheral odontoma is indispensable for the establishment of its diagnosis.


Assuntos
Hamartoma/patologia , Odontoma/diagnóstico , Palato/patologia , Anormalidades Dentárias/patologia , Adolescente , Adulto , Biópsia/métodos , Criança , Pré-Escolar , Feminino , Fibroma/diagnóstico , Seguimentos , Humanos , Lactente , Masculino , Margens de Excisão , Odontoma/cirurgia , Resultado do Tratamento
13.
Vet Pathol ; 57(1): 147-150, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31551010

RESUMO

Odontomas are variably differentiated, hamartoma-like proliferations of odontogenic epithelium, pulp ectomesenchyme (odontoblasts), and dental matrix. Frogs are polyphyodont and homodont. Their teeth also differ from mammals in that they are restricted to the upper jaw in adults and lack a periodontal ligament and cementum, attaching directly to the underlying bone. Odontomas were identified in an African clawed frog (Xenopus laevis), a false tomato frog (Dyscophus guineti), and a tomato frog of unknown species (Dyscophus sp.). All of the examined odontomas were composed of numerous tooth-like structures comprising an arc of dentinal matrix lined on the convex surface by ameloblasts and on the concave surface by odontoblasts. Masson's trichrome and immunohistochemistry with pan-cytokeratin supported these findings. The pathogenesis of these lesions may be displacement of the dental lamina, which has been shown in research studies to lead to de novo proliferation of dental elements in frogs.


Assuntos
Anuros , Hamartoma/veterinária , Neoplasias Bucais/veterinária , Tumores Odontogênicos/veterinária , Odontoma/veterinária , Animais , Hamartoma/diagnóstico , Hamartoma/patologia , Imuno-Histoquímica/veterinária , Neoplasias Bucais/diagnóstico , Neoplasias Bucais/patologia , Tumores Odontogênicos/diagnóstico , Tumores Odontogênicos/patologia , Odontoma/diagnóstico , Odontoma/patologia
14.
Gerodontology ; 37(4): 411-415, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33179813

RESUMO

OBJECTIVE: This report discusses the clinical relevance of a novel case of an odontoma and transmigrated canine in the setting of florid cemento-osseous dysplasia (COD), hypercementosis and moderate to severe periodontitis in a 66-year-old patient. BACKGROUND: An odontoma may infrequently impede tooth eruption and rarely has been implicated with canine transmigration. COD is a benign fibro-osseous lesion associated with decreased vascularity and poorer surgical intervention. MATERIALS AND METHODS: A partially edentulous woman, in no acute distress, underwent clinical and radiographic evaluation in pursuit of comprehensive dental care. RESULTS: Radiographic assessment demonstrated multiple occult pathologies of the mandible, including compound odontoma, canine transmigration, florid COD, hypercementosis and moderate to severe periodontitis, a concurrence thought to be previously unreported. Furthermore, the presence of the odontoma and transmigrated canine is apparently the second reported case in the geriatric population. CONCLUSIONS: The attending clinician should carefully weigh removal of an impacted and transmigrated canine associated with an odontoma in the setting of COD and compromised bone, particularly in older individuals. When surgical intervention is deferred in these clinical situations, patients should continue to be monitored for clinical and radiographic development of pathologic processes.


Assuntos
Displasia Fibrosa Óssea , Odontoma , Dente Impactado , Idoso , Dente Canino/diagnóstico por imagem , Feminino , Humanos , Mandíbula , Odontoma/complicações , Odontoma/diagnóstico por imagem , Odontoma/cirurgia , Dente Impactado/diagnóstico por imagem , Dente Impactado/cirurgia
15.
J Pak Med Assoc ; 70(12(A)): 2277-2280, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33475613

RESUMO

Odontomas are one of the most common tumours of odontogenic origin. They are usually asymptomatic but may be associated with retained primary teeth or missing permanent teeth. Though the exact aetiology is unknown, the postulated causes include trauma, infection, inheritance and genetic mutation. Early diagnosis and management will result in fewer complications. Conservative surgical excision is the treatment of choice. This case report presents a treated case of compound odontoma associated with delayed eruption of the permanent central incisor in a nine-yearsold boy.


Assuntos
Anodontia , Odontoma , Dente Impactado , Criança , Dentição Permanente , Humanos , Incisivo , Masculino , Odontoma/diagnóstico , Odontoma/diagnóstico por imagem , Dente Impactado/diagnóstico por imagem , Dente Impactado/cirurgia
16.
Niger J Clin Pract ; 23(3): 291-297, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32134025

RESUMO

AIMS: To evaluate the presence of dentofacial asymmetry in patients with odontoma by panoramic radiography. METHODS: Panoramic images with odontoma were selected among all panoramic radiographs (3058 patients). Maxillary odontoma was detected in 27 patients while mandibular odontoma was detected in 25 patients. In addition, 30 patients with similar age and gender characteristics were selected as the control group. Skeletal angular, skeletal linear and dental measurements were performed on panoramic radiographs. The odontoma region and the opposite side of the odontoma of the individuals were examined. The dentofacial asymmetry of the odontoma groups was compared with the control group. Paired t-test was used to determine dentofacial asymmetry on the right and left side of the patients with odontoma. The ANOVA test was used for testing the differences among groups. RESULTS: As a result of study, no significant difference was found between the region of the odontoma and the symmetrical region in the maxilla and mandibula (P > 0.05). In the control group, a statistically significant difference was found in the angle between the mandibular canal and the mental foramen, lower incisor size, PFH/CutCat(°), and Co-Mc-Me(°) measurements (P < 0.05). In the maxillary and mandibular odontoma groups, a statistically significant difference was found in the angle between the mandibular canal and the menton, CH (mm), RH (mm), and CrH (mm) in the comparison of the odontoma and the control group (P < 0.05). CONCLUSIONS: No difference was found between the right and left sides of the jaws related with the asymmetry of the maxilla and mandible.


Assuntos
Deformidades Dentofaciais/diagnóstico por imagem , Assimetria Facial/diagnóstico por imagem , Mandíbula/diagnóstico por imagem , Neoplasias Mandibulares/complicações , Maxila/diagnóstico por imagem , Neoplasias Maxilares/complicações , Odontoma/complicações , Radiografia Panorâmica/métodos , Adolescente , Adulto , Cefalometria/métodos , Feminino , Humanos , Incisivo , Masculino , Neoplasias Mandibulares/patologia , Neoplasias Maxilares/patologia , Odontoma/patologia , Adulto Jovem
17.
Stomatologiia (Mosk) ; 99(4): 67-70, 2020.
Artigo em Russo | MEDLINE | ID: mdl-32692523

RESUMO

Odontoma make up about 22% of all odontogenic tumors. Diagnosis and treatment of odontoma in children has a number of features: the variability of the clinical and X-ray picture, the appearance of signs during the period of changing teeth, retention or the difficulty of the eruption of complete teeth in the affected area. In the process of growth odontoma can cause significant deformation of the jaw bones. The delay of the change of deciduous teeth can also be regarded as a risk factor for the formation of deviations from the normal formation of the dental system in children. This article analyzes the symptoms, clinical picture and complex treatment of a 13-year-old patient with this pathology. A clinical case demonstrates the need for regular check-ups at a pediatric dentist, an x-ray examination of the jaws in order to timely detect abnormalities in the development of the dentition of the child, diagnosis and treatment of malformations and tumors in children.


Assuntos
Odontoma/diagnóstico por imagem , Dente Impactado , Adolescente , Criança , Humanos , Radiografia , Fatores de Risco , Erupção Dentária
18.
BMC Oral Health ; 19(1): 164, 2019 07 25.
Artigo em Inglês | MEDLINE | ID: mdl-31345197

RESUMO

BACKGROUND: Otodental syndrome is an exceptionally rare autosomal dominant condition characterized by a delayed eruption of posterior teeth, globodontia, lisping, and sensorineural hearing loss. In this case report, we reported a 3-year-old Chinese boy with the otodental syndrome. CASE PRESENTATION: A 3-year-old Chinese boy was referred to our hospital with complaint of no eruption of primary canines and molars. Three years follow-up showed lately erupted bulbous primary canines with hypoplastic enamel spot, globe-shaped primary molars and sensorineural hearing loss at 4 and a half-year-old age. We diagnosed otodental syndrome in the patient's mother with hearing loss at 16-year-old age. Gene sequencing and analysis of deafness-related genes GJB2, GJB3, SLC26A4, and mtDNA did not reveal any mutation or SNPs in the patient and his mother. CONCLUSIONS: This case report highlights the importance of detailed medical, dental, and family history examination, as well as multi-disciplinary teamwork for diagnosis and treatment of otodental syndrome.


Assuntos
Transtornos Cromossômicos/diagnóstico , Coloboma/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Anormalidades Dentárias/diagnóstico , Anormalidades Múltiplas/genética , Adolescente , Povo Asiático , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 11 , Coloboma/genética , Perda Auditiva Neurossensorial/genética , Humanos , Masculino , Mutação , Odontoma/diagnóstico , Odontoma/genética , Anormalidades Dentárias/genética
19.
Am J Med Genet A ; 176(12): 2614-2622, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30575289

RESUMO

Special AT-rich sequence-binding protein 2 (SATB2)-associated syndrome (SAS) is characterized by alterations of SATB2. Its clinical features include intellectual disability and craniofacial abnormalities, such as cleft palate, dysmorphic features, and dental abnormalities. Here, we describe three previously undiagnosed, unrelated patients with SAS who exhibited dental abnormalities, including multiple odontomas. Although isolated odontomas are common, multiple odontomas are rare. Individuals in families 1 and 3 underwent whole-exome sequencing. Patient 2 and parents underwent targeted amplicon sequencing. On the basis of the hg19/GRCh37 reference and the RefSeq mRNA NM_001172517, respective heterozygous mutations were found and validated in Patients 1, 2, and 3: a splice-site mutation (chr2:g.200137396C > T, c.1741-1G > A), a nonsense mutation (chr2:g.200213750G > A, c.847C > T, p.R283*), and a frame-shift mutations (chr2:g.200188589_200188590del, c.1478_1479del, p.Q493Rfs*19). All mutations occurred de novo. The mutations in Patients 1 and 3 were novel; the mutation in Patient 2 has been described previously. Tooth mesenchymal cells derived from Patient 2 showed diminished SATB2 expression. Multiple odontomas were evident in the patients in this report; however, this has not been recognized previously as a SAS-associated phenotype. We propose that multiple odontomas be considered as an occasional manifestation of SAS.


Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Proteínas de Ligação à Região de Interação com a Matriz/genética , Odontoma/diagnóstico , Odontoma/genética , Fenótipo , Fatores de Transcrição/genética , Adolescente , Alelos , Análise Mutacional de DNA , Éxons , Feminino , Genótipo , Humanos , Masculino , Mutação , Linhagem , Síndrome , Sequenciamento do Exoma , Adulto Jovem
20.
Vet Pathol ; 55(4): 572-583, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29665753

RESUMO

Molar apical elongation (MAE) was the leading cause for euthanasia or death in a captive breeding colony of endangered Amargosa voles ( Microtus californicus scirpensis). Clinical signs included ocular discharge, abnormal mastication, dyspnea, abnormal mentation, weight loss, and death. Although the severity varied, all molars in all quadrants were affected. When severe, the overgrown molar reserve crown and apex protruded into the nasal meatuses, the orbit, the calvarial vault and through the ventral margin of the mandible. Overall prevalence in the colony was 63% (92/146 voles) and increased to 77% in aged voles (>1 year). Mean age of onset was 5.3 months (1.7-11.2 months). Progression to extreme severity occurred over 1 to 3 months. Mean survival was 10.9 months (7.1-21.7 months). Histologically, the lesion was characterized by odontogenic hyperplasia and dysplasia. MAE was also documented in museum specimens of 2 other M. californicus subspecies ( M. californicus californicus, M. californicus vallicola) and 3 other Microtus species ( M. montanus, M. pennsylvanicus, M. socialis). In the M. californicus californicus collection, overall prevalence was 35.1% (129/368 skulls) and increased to 77.3% in aged voles (>1 year). A probable genetic influence was identified in the museum collection of M. californicus californicus. The etiopathogenesis of MAE is likely multifactorial, due to (1) inherent continuous odontogenic proliferation, (2) inadequate occlusal attrition, and (3) possible heritable disease susceptibility. In captivity, dietary or other management of occlusal attrition to prevent or delay MAE is a fundamental concern.


Assuntos
Odontodisplasia/veterinária , Doenças dos Roedores/diagnóstico por imagem , Animais , Arvicolinae , Cruzamento , Feminino , Masculino , Dente Molar/diagnóstico por imagem , Dente Molar/patologia , Odontodisplasia/diagnóstico por imagem , Odontodisplasia/patologia , Doenças dos Roedores/patologia , Microtomografia por Raio-X/veterinária
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