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1.
Ethiop J Health Sci ; 34(1): 101-104, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38957336

RESUMO

Background: Tooth gemination is a single enlarged or joined tooth with a normal tooth count when the anomalous tooth is counted as one. Mandibular second premolars show an elevated variability of crown morphology. Only nine cases of isolated second premolar macrodontia have been reported in the literature. Case Description: This case report presents the clinical and radiographic findings and conservative treatment of an atypical and rare case of localized bilateral molarization of mandibular second premolars. Conclusion: Dental professionals should acquire deeper knowledge about anomalies and plan treatment carefully to avoid unexpected complications during dental procedures caused by morphological ignorance.


Assuntos
Dente Pré-Molar , Mandíbula , Humanos , Dente Pré-Molar/anormalidades , Mandíbula/anormalidades , Feminino , Masculino , Anormalidades Dentárias/etiologia
2.
Gen Dent ; 72(4): 31-36, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38905602

RESUMO

Hearing impairments and dental anomalies are found in many genetic syndromes. Otodental syndrome is a rare combination of hearing loss and the presence of a pathognomonic dental phenotype known as globodontia, in which the tooth exhibits an abnormal globe shape. There is no histologic evidence of structural anomalies in the enamel, dentin, or pulp. This report describes the case of a 12-year-old boy who had hearing loss and 2 supernumerary globe-shaped teeth in the sites of the permanent maxillary central incisors. The diagnosis of otodental syndrome was established based on the clinical, radiographic, and histologic features, but other conditions, including dens evaginatus, talon cusp, dens invaginatus, and compound odontoma, should be included in the differential diagnosis. Dental treatment consisted of the extraction of both anomalous teeth, allowing spontaneous eruption of the impacted permanent central incisors. Early diagnosis of otodental syndrome permits a multidisciplinary approach to prevent other pathologic conditions, reduce functional damage, and avoid social problems.


Assuntos
Incisivo , Humanos , Masculino , Criança , Incisivo/anormalidades , Dente Supranumerário/complicações , Dente Supranumerário/diagnóstico por imagem , Dente Supranumerário/cirurgia , Anormalidades Dentárias/diagnóstico , Diagnóstico Diferencial , Anormalidades Múltiplas , Doenças do Desenvolvimento Ósseo , Deficiência Intelectual , Fácies
3.
Eur Arch Paediatr Dent ; 25(3): 427-432, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38842757

RESUMO

AIM: To investigate the prevalence of tooth agenesis and associated dental anomalies in Latvian adolescent dental patients and compare it to other European countries. DESIGN: Cross-sectional study of 2692 11-to-14-year-old patients (39.9% males and 60.1% females) attending Riga Stradins University Institute of Stomatology with panoramic radiographs taken between August 2020 and September 2021. Patients with any genetic syndromes were excluded. Data on tooth agenesis (excluding third molars) and other dental anomalies were recorded. RESULTS: The prevalence of tooth agenesis in Latvian adolescent dental patients was 9.3% with no statistically significant difference between genders (χ2 test, p = 0.472). The most commonly missing teeth were mandibular second premolars, followed by upper lateral incisors and upper second premolars. There was a statistically significant association with the presence of other dental anomalies in tooth agenesis patients (p < 0.001). CONCLUSIONS: This study found that the prevalence of non-syndromic tooth agenesis in Latvian adolescent dental patients was 9.3% with no statistically significant differences between the genders. Patients with tooth agenesis have a statistically significant possibility of the presence of other dental anomalies (p < 0.001).


Assuntos
Anodontia , Humanos , Anodontia/epidemiologia , Anodontia/diagnóstico por imagem , Adolescente , Letônia/epidemiologia , Masculino , Feminino , Estudos Transversais , Prevalência , Estudos Retrospectivos , Criança , Anormalidades Dentárias/epidemiologia , Anormalidades Dentárias/diagnóstico por imagem , Radiografia Panorâmica
4.
Dent Med Probl ; 61(3): 457-464, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38916078

RESUMO

Focal microdontia is a dental anomaly characterized by the presence of a single abnormally small anterior or posterior tooth. The objective of this article is to provide an updated review of the literature on the advanced restorative management of focal microdontia, and to document a clinical case where the reviewed advanced restorative approaches were applied to treat a young adult presenting with a non-syndromic asymmetrical focal microdontia.We conducted a preliminary examination of the existing literature on the advanced restorative management of focal microdontia. Additionally, we presented a minimally invasive approach to the treatment of an 18-year-old female patient with non-syndromic asymmetrical focal microdontia. The primary advantage of adhesive dentistry is that it can better preserve the structure of smaller teeth. A review of literature reveals a paucity of reports on localized microdontia in the maxillary anterior region of the mouth. However, novel minimally invasive restorative procedures satisfy patients' aesthetic and functional preferences. Well-executed additive diagnostic wax-ups and intraoral mock-ups can serve as a permanent restoration blueprint, providing predictable results for focal dental anomalies in the aesthetic zone. In conclusion, the use of minimally invasive dental approaches in young patients with focal microdontia can result in long-term satisfactory aesthetic outcomes.


Assuntos
Restauração Dentária Permanente , Humanos , Feminino , Adolescente , Restauração Dentária Permanente/métodos , Anormalidades Dentárias/terapia , Estética Dentária , Resinas Compostas
5.
J Am Dent Assoc ; 155(6): 484-495.e21, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38713117

RESUMO

BACKGROUND: MSX1 sequence variants have been known to cause human tooth agenesis (TA) with or without orofacial clefts. However, their roles during the whole processes of tooth development are not fully understood. This study aimed to characterize a 4-membered family with TA carrying a novel MSX1 pathogenic variant and investigate the disease mechanism. METHODS: The authors conducted whole exome analysis to define the disease-causing sequence variant. They performed microcomputed tomography, morphometric analyses, transcriptome profiling, and molecular characterization to study the affected teeth and the gene variant. RESULTS: The authors identified an MSX1 pathogenic variant, p.Glu232∗, in affected family members with TA and concomitant orodental anomalies, namely, prominent maxillary labial frenum, central incisor diastema, median maxillary anterior alveolar cleft, tooth fusion, mandibular molar dysmorphology, thin dentin layer, and slender dental roots. MSX1-defective teeth were not apparently microdontic but had thin dentin layers. The mandibular molars showed a homeotic transformation to maxillary counterparts. Genes involved in extracellular matrix organization and dentinogenesis, such as DMP1 and MMP20, were downregulated in dental pulp tissues of MSX1-defective teeth. The p.Glu232∗-truncated MSX1 properly localized to the nucleus but partially lost its transactivation ability. Analyzing reported cases indicated that truncation sequence variants within the homeobox domain of MSX1 caused a more severe TA phenotype than those outside of the homeobox domain, probably due to dominant negativity compared with haploinsufficiency. CONCLUSIONS: This study provides in vivo evidence that MSX1 contributes to developmental processes of various orodental tissues in humans. PRACTICAL IMPLICATIONS: Clinically, hypertrophic labial frenum, incisor diastema, and median maxillary anterior alveolar cleft might be considered diagnostic for MSX1-associated TA.


Assuntos
Fator de Transcrição MSX1 , Humanos , Fator de Transcrição MSX1/genética , Masculino , Feminino , Anodontia/genética , Linhagem , Microtomografia por Raio-X , Anormalidades Dentárias/genética , Adulto , Adolescente , Criança , Variação Genética
6.
PLoS One ; 19(5): e0302810, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38713685

RESUMO

OBJECTIVE: The two commonly used diagnostic methods for taurodontism are susceptible to aging changes, mastication wear and other factors. Therefore, this study proposed an improved diagnostic method for taurodontism, and compared it with the previous two methods as a supplement for taurodontism diagnosis. METHODS: The included patients were aged 10-89 years and admitted to the Department of Stomatology of Hebei Eye Hospital from June 1, 2022 to May 31, 2023. Eighty cone-beam computed tomography images were divided equally into 4 groups: 10-29, 30-49, 50-69, and 70-89 years old. The right mandibular first molars were selected as measurement objects. Firstly, |BD| and taurodontism index (TI)-related parameters were measured using Shifman and Chanannel's method and crown-body(CB) and root (R) lengths was measured by Seow and Lai's method. The improved method used the length from the cementoenamel junction(CEJ) to the root bifurcation point(body, B)and the root length(root, R)as the measurement objects. Finally, TI, CB/R ratios, and B/R ratios were calculated according to the formulas given below. One-way ANOVA analysis was mainly used to compare the differences in the values, indices and ratios of taurodontism among different age groups (p<0.05). RESULTS: With the increase of age, |BD| and TI values decreased significantly (p<0.01). The CB/R ratios of 70-89 years group were significantly lower than those of the other three groups (p<0.01). Ratios derived from the improved method were significantly lower in the 70-89 years than in 10-29 years group (p<0.05). CONCLUSIONS: The |BD| and TI parameters proposed by Shifman and channel are significantly influenced by age. The measurements of Seow and Lai (CB/R ratios) were less affected by age compared with those of the former. The improved method(B/R ratios) was least affected by age, which would reduce error and bias in the measurement of taurodontism and obtain more objective results in older patients.


Assuntos
Tomografia Computadorizada de Feixe Cônico , Cavidade Pulpar/anormalidades , Humanos , Idoso , Pessoa de Meia-Idade , Adolescente , Adulto , Idoso de 80 Anos ou mais , Criança , Feminino , Masculino , Adulto Jovem , Tomografia Computadorizada de Feixe Cônico/métodos , Dente Molar/diagnóstico por imagem , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico
7.
Pathol Oncol Res ; 30: 1611768, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38807857

RESUMO

Background: Gardner syndrome is a rare genetic cancer predisposition disorder characterized by intestinal polyposis, multiple osteomas, and soft and hard tissue tumors. Dental anomalies are present in approximately 30%-70% of patients with Gardner syndrome and can be discovered during routine dental examinations. However, sometimes the diagnosis is challenging due to the high clinical variability and incomplete clinical picture. Herein, we report a family with various dental and bone anomalies, in which the definitive diagnosis was established with the help of a comprehensive genetic analysis based on state-of-the-art next-generation sequencing technology. Case presentation: A 17-year-old female index patient presented with dental (caries, impacted, retained and anteriorly located teeth) and atypical bone anomalies not resembling Gardner syndrome. She was first referred to our Genetic Counselling Unit at the age of 11 due to an atypical bone abnormality identified by a panoramic X-ray. Tooth 3.6 was surgically removed and the histopathology report revealed a Paget's disease-like bone metabolic disorder with mixed osteoblastic and osteoclastic activity of the mandible. A small lumbar subcutaneous tumor was discovered by physical examination. Ultrasound examination of the tumor raised the possibility of a soft tissue propagation of chondromatosis. Her sister, 2 years younger at the age of 14, had some benign tumors (multiple exostoses, odontomas, epidermoid cysts) and impacted teeth. Their mother had also skeletal symptoms. Her lower teeth did not develop, the 9th-10th ribs were fused, and she complained of intermittent jaw pain. A cranial CT scan showed fibrous dysplasia on the cranial bones. Whole exome sequencing identified a heterozygous pathogenic nonsense mutation (c.4700C>G; p.Ser1567*) in the APC gene in the index patient's DNA. Targeted sequencing revealed the same variant in the DNA of the other affected family members (the sister and the mother). Conclusion: Early diagnosis of this rare, genetically determined syndrome is very important, because of the potentially high malignant transformation of intestinal polyps. Dentists should be familiar with the typical maxillofacial features of this disorder, to be able to refer patients to genetic counseling. Dental anomalies often precede the intestinal polyposis and facilitate the early diagnosis, thereby increasing the patients' chances of survival. Genetic analysis may be necessary in patients with atypical phenotypic signs.


Assuntos
Síndrome de Gardner , Testes Genéticos , Humanos , Síndrome de Gardner/genética , Síndrome de Gardner/diagnóstico , Síndrome de Gardner/patologia , Feminino , Adolescente , Anormalidades Dentárias/genética , Anormalidades Dentárias/patologia , Anormalidades Dentárias/diagnóstico , Diagnóstico Precoce , Linhagem
8.
Int J Mol Sci ; 25(10)2024 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-38791218

RESUMO

KCTD1 plays crucial roles in regulating both the SHH and WNT/ß-catenin signaling pathways, which are essential for tooth development. The objective of this study was to investigate if genetic variants in KCTD1 might also be associated with isolated dental anomalies. We clinically and radiographically investigated 362 patients affected with isolated dental anomalies. Whole exome sequencing identified two unrelated families with rare (p.Arg241Gln) or novel (p.Pro243Ser) variants in KCTD1. The variants segregated with the dental anomalies in all nine patients from the two families. Clinical findings of the patients included taurodontism, unseparated roots, long roots, tooth agenesis, a supernumerary tooth, torus palatinus, and torus mandibularis. The role of Kctd1 in root development is supported by our immunohistochemical study showing high expression of Kctd1 in Hertwig epithelial root sheath. The KCTD1 variants in our patients are the first variants found to be located in the C-terminal domain, which might disrupt protein-protein interactions and/or SUMOylation and subsequently result in aberrant WNT-SHH-BMP signaling and isolated dental anomalies. Functional studies on the p.Arg241Gln variant are consistent with an impact on ß-catenin levels and canonical WNT signaling. This is the first report of the association of KCTD1 variants and isolated dental anomalies.


Assuntos
Anormalidades Dentárias , Humanos , Anormalidades Dentárias/genética , Feminino , Masculino , Via de Sinalização Wnt/genética , Linhagem , Criança , Sequenciamento do Exoma , Adolescente , Variação Genética , beta Catenina/genética , beta Catenina/metabolismo , Adulto , Proteínas Correpressoras
9.
BMC Med ; 22(1): 158, 2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38616269

RESUMO

ANKRD11 (ankyrin repeat domain 11) is a chromatin regulator and the only gene associated with KBG syndrome, a rare neurodevelopmental disorder. We have previously shown that Ankrd11 regulates murine embryonic cortical neurogenesis. Here, we show a novel olfactory bulb phenotype in a KBG syndrome mouse model and two diagnosed patients. Conditional knockout of Ankrd11 in murine embryonic neural stem cells leads to aberrant postnatal olfactory bulb development and reduced size due to reduction of the olfactory bulb granule cell layer. We further show that the rostral migratory stream has incomplete migration of neuroblasts, reduced cell proliferation as well as aberrant differentiation of neurons. This leads to reduced neuroblasts and neurons in the olfactory bulb granule cell layer. In vitro, Ankrd11-deficient neural stem cells from the postnatal subventricular zone display reduced migration, proliferation, and neurogenesis. Finally, we describe two clinically and molecularly confirmed KBG syndrome patients with anosmia and olfactory bulb and groove hypo-dysgenesis/agenesis. Our report provides evidence that Ankrd11 is a novel regulator of olfactory bulb development and neuroblast migration. Moreover, our study highlights a novel clinical sign of KBG syndrome linked to ANKRD11 perturbations in mice and humans.


Assuntos
Anormalidades Múltiplas , Doenças do Desenvolvimento Ósseo , Deficiência Intelectual , Anormalidades Dentárias , Humanos , Animais , Camundongos , Fácies , Bulbo Olfatório , Modelos Animais de Doenças
10.
Acta Odontol Scand ; 83: 197-203, 2024 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-38661111

RESUMO

OBJECTIVE: This study aimed to investigate the radiological features of the permanent canines and the treatment carried out to ensure their eruption relative to certain features involved in Dental Anomaly Patterns (DAP). MATERIAL AND METHODS: The cross-sectional part of this retrospective register--based study focused on 1,315 dental panoramic tomographs (DPTs) of children aged 8.5-10.5 years, while the longitudinal part involved information on the treatment provided for 1,269 canines after the DPTs and on their eruption into the oral cavity. RESULTS: The canines of the DAP children more often showed evidence of early treatment (p = 0.014), with girls having more frequently interceptive treatment (p = 0.004) and boys early headgear (p = 0.022). Delayed dental age was associated with early treatment (OR 3.29, 95% CI 1.08-9.99). Either no or clear overlapping of a canine with the lateral incisor occurred more often in the DAP children, whereas canine inclination did not differ between the groups. The root development stage of the canine was more often either beginning or well advanced in the DAP children. CONCLUSIONS: The children with dental developmental abnormalities more often showed evidence of early treatment for the canines. Monitoring of the erupting canines after the first mixed stage is important to enable timely early treatment.


Assuntos
Dente Canino , Maxila , Radiografia Panorâmica , Erupção Dentária , Humanos , Criança , Dente Canino/diagnóstico por imagem , Dente Canino/anormalidades , Masculino , Feminino , Estudos Retrospectivos , Erupção Dentária/fisiologia , Maxila/diagnóstico por imagem , Estudos Transversais , Anormalidades Dentárias/diagnóstico por imagem
12.
Hua Xi Kou Qiang Yi Xue Za Zhi ; 42(1): 89-96, 2024 Feb 01.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-38475956

RESUMO

OBJECTIVES: To provide references, this study investigated the clinical characteristics of patients with nonsyndromic oligodontia. METHODS: The information of 178 patients with oligodontia was collected, including histories, oral examinations, and panoramic radiographs. Tooth agenesis characteristics were calculated and evaluated. All the data were statistically analyzed with SPSS 24.0 software. RESULTS: No significant difference in the number of missing teeth was found between sexes nor between the right and left sides, and congenitally missing teeth affected the maxillary arch (P<0.05). The highest prevalence of tooth agenesis was observed in the mandibular second premolars. In the maxillary arch, the most common pattern of tooth agenesis was agenesis of the bilateral first and second premolars. The agenesis of the bilateral second premolars was observed in the mandibular arch. The prevalence of a symmetric pattern between the right and left quadrants was significantly higher than that of matched patterns between the maxillary and mandibular antagonistic quadrants. Approximately 16.85% of patients with nonsyndromic oligodontia were affected by other tooth-related anomalies. CONCLUSIONS: The common patterns of tooth agenesis were successfully identified in patients with nonsyndromic oligodontia. Dentists need to provide multidisciplinary treatments for patients with nonsyndromic oligodontia because of variations in occluding and full-mouth tooth agenesis patterns.


Assuntos
Anodontia , Anormalidades Dentárias , Humanos , Anodontia/epidemiologia , Anodontia/genética , Anormalidades Dentárias/epidemiologia , Dente Pré-Molar/anormalidades , Maxila , Fenótipo , Prevalência
13.
Artigo em Inglês | MEDLINE | ID: mdl-38553307

RESUMO

OBJECTIVE: This study analyzed the systemic and oral abnormalities in individuals with Kabuki syndrome (KS) that might be investigated to enhance the early diagnosis and treatment by a multidisciplinary team, minimizing the consequences to the individual's health. STUDY DESIGN: Clinical examination was conducted on 15 individuals to investigate orodental alterations such as tooth abnormalities and cleft lip and/or palate, and the patient records were also reviewed to investigate systemic diseases such as cardiopathies, infectious and immunologic diseases, nephropathies, and delayed neuropsychomotor development. RESULTS: All individuals with KS presented cleft lip and/or palate, 11 (73.34%) tooth abnormalities, 5 (33.34%) congenital cardiopathies, 12 (80%) infectious or immunologic diseases, 1 (6.67%) nephropathy, and 14 (93.34%) had an intellectual disability. CONCLUSION: Individuals with KS often have dental anomalies such as hypodontia, cleft or palate, and systemic disorders such as congenital heart disease and infectious diseases. Intellectual disability is present in most cases. These alterations should be investigated as early as possible to prevent the increase in morbidity in these individuals.


Assuntos
Anormalidades Múltiplas , Face/anormalidades , Doenças Vestibulares , Humanos , Feminino , Masculino , Doenças Vestibulares/complicações , Criança , Pré-Escolar , Adolescente , Anormalidades Dentárias , Adulto , Deficiência Intelectual/complicações , Lactente , Fissura Palatina/complicações , Doenças Hematológicas/complicações
14.
Prog Orthod ; 25(1): 12, 2024 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-38523193

RESUMO

BACKGROUND: Mutations in one or multiple genes can lead to hypodontia and its characteristic features. Numerous studies have shown a strong genetic influence on the occurrence of hypodontia, and identified several genes, including AXIN2, EDA, FGF3, FGFR2, FGFR10, WNT10A, MSX1, and PAX9, that are directly associated with dental agenesis and carcinogenesis. The objective of this study was to investigate the occurrence and pattern of tooth agenesis, microdontia, and palatally displaced canine (PDC) in women diagnosed with papillary thyroid cancer (PTC), compared to a control group of women without any malignancy or thyroid disease. MATERIALS AND METHODS: This case-control study was carried at the Department of Orthodontics, School of Dental Medicine University of Zagreb, and Department of Oncology and Nuclear Medicine Sestre Milosrdnice University Hospital Centre. The study involved a clinical examination and evaluation of dental status, panoramic X-ray analysis, and assessment of medical and family history of 116 female patients aged 20-40 with PTC, as well as 424 females in the control group who were of similar age. RESULTS: The prevalence of hypodontia, microdontia, and PDC was statistically higher in women with PTC than in the control group. The prevalence rate of hypodontia was 11.3% in the experimental group and 3.5% in the control group. The experimental group showed a higher occurrence of missing upper lateral incisors, lower left central incisors, and all the third molars (except the upper left) compared to the control group. Women with PTC showed the prevalence of PDC significantly higher than the control group (3.5%, 0.7%, p = 0.002). The probability of hypodontia as a clinical finding increases 2.6 times, and microdontia occurs 7.7 times more frequently in women with PTC. CONCLUSION: Our study suggests a possible link between odontogenesis and PTC. The absence of permanent teeth may increase the likelihood of PTC in women. Leveraging the age-7 orthopantomogram to identify women at high risk for PTC within a critical early detection window could significantly improve oral health outcomes and PTC prognosis through proactive interventions.


Assuntos
Neoplasias da Glândula Tireoide , Anormalidades Dentárias , Feminino , Humanos , Anodontia/epidemiologia , Anodontia/complicações , Estudos de Casos e Controles , Fatores de Risco , Câncer Papilífero da Tireoide/complicações , Neoplasias da Glândula Tireoide/complicações , Anormalidades Dentárias/complicações , Adulto Jovem , Adulto
16.
Dent Clin North Am ; 68(2): 227-245, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38417988

RESUMO

This review aims to present a detailed analysis of the most common developmental and acquired dental abnormalities, including caries, resorptive lesions, and congenital anomalies of teeth number, size, form, and structure. This review highlights how diagnostic imaging can aid in the accurate identification and management of these conditions.


Assuntos
Cárie Dentária , Anormalidades Dentárias , Humanos , Cárie Dentária/diagnóstico por imagem , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/epidemiologia
17.
J. Health Biol. Sci. (Online) ; 12(1): 1-7, jan.-dez. 2024. tab
Artigo em Português | LILACS | ID: biblio-1554637

RESUMO

Objetivo: avaliar a prevalência de anomalias dentárias (AD) e outros achados orais em radiografias panorâmicas de pacientes com fissuras labiopalatais (FLP) nascidos no Nordeste brasileiro. Métodos: a amostra foi composta por 69 pacientes com fissuras labiopalatais unilateral (FLPu) (n = 51) e bilateral (FLPb) (n = 18), não sindrômicos, de ambos os sexos, idade de 6 a 17 anos, nascidos no Nordeste brasileiro. Foram analisados prontuários e radiografias panorâmicas de pacientes atendidos de janeiro/2020 a julho/2022. Os dados categóricos foram expressos em forma de frequência absoluta e percentual e comparados por teste exato de Fisher ou qui-quadrado de Pearson (SPSS, p < 0,05). Resultados: entre os achados orais, destacaram-se as anomalias de número e as ausências dentárias por trauma, cárie ou doença periodontal. As AD foram identificadas em 34 pacientes (49,3%). As anomalias de número apresentaram maior prevalência, com diferença estatística significativa para pacientes FLPb do sexo masculino (p = 0,047). A agenesia foi a AD mais frequente (n = 24; 34,8%). As ausências dentárias por trauma, cárie ou doença periodontal foram observadas em 44 pacientes (n = 63,8%), com uma diferença estatística significativa entre os grupos FLPu e FLPb (p = 0,018). Conclusões: as AD e as ausências dentárias por trauma, cárie ou doença periodontal apresentaram uma alta prevalência entre pacientes brasileiros com FLP e devem ser consideradas durante o planejamento ortodôntico-cirúrgico desses indivíduos.


Aim: this study aimed to assess the prevalence of dental anomalies (DA) and other oral findings in panoramic radiographs of patients with cleft lip and palate (CLP) born in the Northeast region of Brazil. Methods: the sample consisted of 69 patients with unilateral cleft lip and palate (UCLP) (n = 51) and bilateral cleft lip and palate (BCLP) (n = 18), non-syndromic, of both genders, aged 6 to 17 years, born in the Brazilian Northeast. Patient records and panoramic radiographs from those treated between January 2020 and July 2022 were analyzed. Categorical data were expressed as absolute frequency and percentage and compared using Fisher's exact test or Pearson's chi-square test (SPSS, p < 0.05). Results: among oral findings, anomalies in number and tooth absences due to trauma, caries, or periodontal disease stood out. DAs were identified in 34 patients (49.3%). Anomalies in number showed higher prevalence, with a statistically significant difference for male BCLP patients (p = 0.047). Agenesis was the most frequent DA (n = 24; 34.8%). Tooth absences due to trauma, caries, or periodontal disease were observed in 44 patients (63.8%), with a statistically significant difference between the UCLP and BCLP groups (p = 0.018). Conclusions: DAs and tooth absences due to trauma, caries, or periodontal disease showed a high prevalence among Brazilian patients with CLP and should be considered during the orthodontic-surgical planning for these individuals.


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Anormalidades Dentárias , Fissura Palatina , Prevalência , Fenda Labial , Anormalidades Craniofaciais
18.
BMJ Case Rep ; 17(2)2024 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-38355206

RESUMO

Goltz-Gorlin syndrome is a rare X-linked inherited disorder associated with PORCN (porcupine homolog-Drosophila) gene mutation. It primarily affects the skin and its appendages. The characteristic cutaneous features include a blaschko-linear pattern, skin atrophy, pigmentary changes, and telangiectasia. The oral manifestations have been reported in more than half of the affected individuals. The most common oral findings include enamel hypoplasia, hypodontia, supernumerary teeth, microdontia, vertical grooving of the teeth, taurodontism, fusion, and abnormal root morphology reported in sporadic cases. The objective of this case report is to describe the dentofacial characteristics of a middle childhood aged girl with Goltz-Gorlin syndrome.


Assuntos
Hipoplasia Dérmica Focal , Anormalidades Dentárias , Dente Supranumerário , Criança , Feminino , Humanos , Aciltransferases/genética , Hipoplasia Dérmica Focal/complicações , Hipoplasia Dérmica Focal/genética , Proteínas de Membrana/genética , Mutação , Pele , Anormalidades Dentárias/complicações , Dente Supranumerário/complicações
20.
Life Sci Alliance ; 7(4)2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38253421

RESUMO

Despite the advances in high-throughput sequencing, many rare disease patients remain undiagnosed. In particular, the patients with well-defined clinical phenotypes and established clinical diagnosis, yet missing or partial genetic diagnosis, may hold a clue to more complex genetic mechanisms of a disease that could be missed by available clinical tests. Here, we report a patient with a clinical diagnosis of Tuberous sclerosis, combined with unusual secondary features, but negative clinical tests including TSC1 and TSC2 Short-read whole-genome sequencing combined with advanced bioinformatics analyses were successful in uncovering a de novo pericentric 87-Mb inversion with breakpoints in TSC2 and ANKRD11, which explains the TSC clinical diagnosis, and confirms a second underlying monogenic disorder, KBG syndrome. Our findings illustrate how complex variants, such as large inversions, may be missed by clinical tests and further highlight the importance of well-defined clinical diagnoses in uncovering complex molecular mechanisms of a disease, such as complex variants and "double trouble" effects.


Assuntos
Anormalidades Múltiplas , Doenças do Desenvolvimento Ósseo , Deficiência Intelectual , Anormalidades Dentárias , Humanos , Fácies
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