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1.
Methods Mol Biol ; 1922: 407-452, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30838594

RESUMO

Rare genetic disorders are often challenging to diagnose. Anomalies of tooth number, shape, size, mineralized tissue structure, eruption, and resorption may exist as isolated symptoms or diseases but are often part of the clinical synopsis of numerous syndromes (Bloch-Zupan A, Sedano H, Scully C. Dento/oro/craniofacial anomalies and genetics, 1st edn. Elsevier, Boston, MA, 2012). Concerning amelogenesis imperfecta (AI), for example, mutations in a number of genes have been reported to cause isolated AI, including AMELX, ENAM, KLK4, MMP20, FAM83H, WDR72, C4orf26, SLC24A4, and LAMB3. In addition, many other genes such as DLX3, CNNM4, ROGDI, FAM20A, STIM1, ORAI1, and LTBP3 have been shown to be involved in developmental syndromes with enamel defects. The clinical presentation of the enamel phenotype (hypoplastic, hypomineralized, hypomature, or a combination of severities) alone does not allow a reliable prediction of possible causative genetic mutations. Understanding the potential genetic cause(s) of rare diseases is critical for overall health management of affected patient. One effective strategy to reach a genetic diagnosis is to sequence a selected gene panel chosen for a determined range of phenotypes. Here we describe a laboratory protocol to set up a specific gene panel for orodental diseases.


Assuntos
Anormalidades Craniofaciais/genética , Variação Genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Doenças Raras/genética , Anormalidades Dentárias/genética , Amelogênese Imperfeita/diagnóstico , Amelogênese Imperfeita/genética , Anormalidades Craniofaciais/diagnóstico , DNA/genética , Desenho de Equipamento , Sequenciamento de Nucleotídeos em Larga Escala/instrumentação , Humanos , Doenças Raras/diagnóstico , Anormalidades Dentárias/diagnóstico
2.
Arq. bras. med. vet. zootec. (Online) ; 71(1): 21-27, jan.-fev. 2019. tab
Artigo em Inglês | LILACS, VETINDEX | ID: biblio-989376

RESUMO

The present study aimed to identify and quantify dental diseases in Crioulo horses reared exclusively under extensive farming conditions. In total, 254 Crioulo horses were evaluated, that were reared exclusively in native pastures with predominantly Eragrostis plana (Annoni grass). The animals were divided into three groups according to age: three to five years (G1), six to 12 years (G2), and 13 to 26 years (G3). In total, 46.1% of the animals in G1, 63.8% in G2, and 82.3% in G3 had two or more incisor disorders; 37.5% in G1, 52.5% in G2 and 45.5% in G3 had two or more disease findings in the canines; and 28.9% in G1, 35.4% in G2, and 64.7% in G3 had four or more disease findings in the second, third, and fourth premolars and molars. However, dental calculus was observed in 90.5% of G2 animals, whereas in G3, the occurrence rate of excessive enamel points and calculus was 82.4%. Although all of the horses studied were reared in an extensive farming system, dental changes were very common in the Crioulo breed reared under these management conditions.(AU)


O presente estudo teve por objetivo identificar e quantificar as afecções odontológicas de equinos da raça Crioula criados exclusivamente em regime extensivo. No total, foram avaliados 254 cavalos Crioulos, criados em pastagens nativas com predominância de Eragrostis plana (capim-annoni). Os animais foram divididos em três grupos, de acordo com a idade: de três a cinco anos (G1), seis a 12 anos (G2 ) e 13 a 26 anos (G3). No total, 46,1% dos animais do G1, 63,8% do G2 e 82,3% do G3 apresentaram dois ou mais transtornos incisivos; 37,5% do G1, 52,5% do G2 e 45,5% do G3 tiveram duas ou mais alterações nos caninos; 28,9% do G1, 35,4% do G2 e 64,7% do G3 mostraram quatro ou mais distúrbios no segundo, terceiro e quarto pré-molares e molares. Contudo, cálculo dentário foi observado em 90,5% dos animais do G2, enquanto no G3, a taxa de ocorrência de pontas excessivas de esmalte dentário e cálculo foi de 82,4%. Concluiu-se que, apesar de todos os equinos estudados serem mantidos em sistema extensivo, as afecções dentárias mostraram-se muito comuns na raça Crioula sob estas condições de manejo.(AU)


Assuntos
Animais , Anormalidades Dentárias/diagnóstico , Doenças Estomatognáticas/diagnóstico , Cavalos/anormalidades
3.
Pesqui. bras. odontopediatria clín. integr ; 19(1): 4026, 01 Fevereiro 2019. tab, graf
Artigo em Inglês | LILACS, BBO - Odontologia | ID: biblio-998226

RESUMO

Objective: To identify the dental anomalies that can modify the occlusal characteristics and their distribution in these occlusal alterations in the skeletal patterns of children. Material and Methods: We analyzed charts, panoramic and periapical radiographs of children aged 5 to 12 years from 2009 to 2012. The facial pattern was evaluated through subjective face analysis and cephalometric data, as well as the occlusion of patients with and without (control) dental anomalies. The relationship between the presence of dental anomalies and malocclusion was analyzed by the Chi-square test with significance level of 5%. Results: 73 children (27.8%) presented dental anomalies, being 49.3% in girls and 50.7% in boys in a total of 88 teeth involved. Anomalies observed in decreasing order were: enamel hypoplasias, eruptive ectopias, agenesis, supernumerary teeth, corono-radicular dilaceration, microdontia, transposition and imperfect amelogenesis. Of these, 22.2% presented associated dental anomalies, whose ectopic eruption with enamel hypoplasia were the most frequently encountered. When comparing the control group with children with dental abnormalities it was observed a significant relationship between the presence of dental anomalies and malocclusion (p<0.05). The most frequent alteration among patients with dental anomalies was deep overbite (24.6%), followed by crowding (23.3%), posterior crossbite (14.2%), anterior open bite (12.9%) and anterior crossbite (0.3%). Conclusion: Dental dysgenesis interferes with the development of occlusion and the resulting occlusal problems are distributed differently, taking into account the skeletal facial pattern in patients with and without dental anomalies.


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Anormalidades Dentárias/diagnóstico , Dente Supranumerário , Radiografia Panorâmica/instrumentação , Cefalometria , Má Oclusão , Brasil , Distribuição de Qui-Quadrado
4.
Med. oral patol. oral cir. bucal (Internet) ; 24(1): e8-e11, ene. 2019. tab
Artigo em Inglês | IBECS | ID: ibc-180400

RESUMO

Background: The aim of this study was to record and analyze all DDAs associated to dilacerated teeth in patients attending the clinics of the Postgraduate Division, Facultad de Odontología, UNAM in Mexico City. Material and Methods: Orthopantomograms from all patients seeking for stomatological attention in our institution were reviewed and those cases of dilaceration were separated. Age, gender, diagnosis, location, involved teeth and associated DDAs were recorded and analyzed. Results: From 6,340 patients, 99 (1.6%) harbored 125 dilacerated teeth. Of them, 45 (45.5%) showed one or more DDAs. The most frequently detected DDAs were hypodontia, enamel pearls, taurodontism and microdontia. Conclusions: 45.5% is a very high proportion of DDAs in patients with dilacerated roots. Findings from this study strongly suggest that patients with dilacerated teeth should be carefully screened since many of them could present other DDAs. Simultaneous occurrence of dilaceration and DDAs suggests synchronic developmental defects during dental growth


No disponible


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Anormalidades Dentárias/diagnóstico , Raiz Dentária/anormalidades , Dente/crescimento & desenvolvimento , Odontopatias/diagnóstico , Odontogênese/fisiologia
5.
Pediatr. aten. prim ; 20(78): 183-188, abr.-jun. 2018. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-174701

RESUMO

La hipomineralización de incisivos y molares es un trastorno de desarrollo de los primeros molares y de los incisivos permanentes. El esmalte afectado es frágil y se puede desprender fácilmente, dejando expuesta la dentina, lo cual favorece la sensibilidad dentinaria y el desarrollo de lesiones cariosas. Los posibles factores etiológicos se asocian a alteraciones durante la gestación y a algunas enfermedades de la primera infancia. Los pacientes afectados por hipomineralización de incisivos y molares exhiben signos y síntomas clínicos definidos, lo que permite clasificarlos de acuerdo con la gravedad y con las características de la hipomineralización. El tratamiento de los niños afectados por hipomineralización de incisivos y molares debe ir dirigido, en primer lugar, al diagnóstico de las lesiones y al establecimiento del riesgo de caries. Cuando se presenten molares con ruptura del esmalte y exposición dentinaria, se debe emplear un manejo integral con control de la conducta y la ansiedad, con el objetivo de ofrecer a los pacientes un tratamiento sin dolor que permita la restauración y el mantenimiento de una salud bucal adecuada, por lo que es importante establecer medidas de control de la caries


The hypomineralization of the incisors and molars is a developmental enamel defect affecting one to four permanent first molars frequently associated with affected incisors. The enamel breakdown is common in the affected mo lars resulting in hypersensitivity and to dental caries development. The possible etiological factors are as sociated with systemic cause occurring in pregnancy, around the time of birth or in the first childhood. The treatment of children affected by molar-incisor hypomineralization should be focused, first, on the diagnosis of the lesions and the establishment of caries risk. A comprehensive management of behavior and anxiety should be offered in patients with enamel cracks and exposed dentin in molars, in order to offer a painless treatment with long life restorations and proper oral health maintenance. It is also important to establish caries control procedures


Assuntos
Humanos , Criança , Desmineralização do Dente/diagnóstico , Incisivo/anormalidades , Dente Molar/anormalidades , Anormalidades Dentárias/diagnóstico , Cárie Dentária/epidemiologia , Cárie Dentária/prevenção & controle , Anormalidades Dentárias/terapia
6.
J Coll Physicians Surg Pak ; 28(5): 401-402, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29690974

RESUMO

Iridogoniodysgenesis is a rare autosomal dominant disorder affecting anterior segment of the eye. Fifty percent cases of iridogoniodysgenesis have glaucoma, which is particularly difficult to manage. We report here a case of 40 years old man with this rare disorder, presenting to our glaucoma department. It was characterised by iris hypoplasia and juvenile glaucoma. To stop fluctuation in his intraocular pressure (IOP) and to save his vision from glaucomatous damage, our team had to do three different surgical procedures, i.e. trabeculectomy with F5U, diode laser cycloablation and aqueous shunt procedure, over a period of 10 months. This case report discusses management of glaucoma in this particular patient and challenges faced during the treatment. Regular follow-up and timely intervention can save such patients from complete blindness. To authors' knowledge, this is the first reported case of iridogoniodysgenesis in Pakistan.


Assuntos
Câmara Anterior/anormalidades , Anormalidades do Olho/terapia , Implantes para Drenagem de Glaucoma , Glaucoma/terapia , Doenças da Íris/terapia , Terapia a Laser , Anormalidades Dentárias/terapia , Trabeculectomia , Adulto , Anormalidades do Olho/diagnóstico , Glaucoma/diagnóstico , Humanos , Pressão Intraocular , Doenças da Íris/diagnóstico , Lasers Semicondutores , Tomografia de Coerência Óptica , Anormalidades Dentárias/diagnóstico , Resultado do Tratamento
7.
J Craniofac Surg ; 29(5): 1316-1321, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29485555

RESUMO

AIM: The aims of this study were to evaluate the prevalence of dental anomalies in Turkish patients with different types of cleft lip and palate (CLP) and investigate the relationship between the type of cleft and the dental anomaly. METHODS: Eighty-eight patients with cleft lip and/or palate (mean age: 14.1 ±â€Š6.4 years) were enrolled in this retrospective study. Dental models, panoramic radiographs, and intraoral photographs of these patients were evaluated to detect any maxillary dental anomaly (number and size anomalies). Two hundred fifty unaffected subjects (mean age: 15.2 ±â€Š7.2 years) composed the control group. Data were evaluated using the independent t test, χ, Fischer exact test, and the odds ratio. RESULTS: Dental anomaly frequency was significantly higher in the cleft group compared with the control group. Tooth agenesis was the most common dental anomaly, followed by microdontia and supernumerary tooth. Lateral incisor agenesis was seen in 69% of the unilateral CLP, in 78% of the bilateral CLP, and in 18% of the cleft palate patients. A significant association was revealed between the right unilateral CLP and the right lateral incisor agenesis (P = 0.0001), the left unilateral CLP and the left lateral incisor agenesis (P = 0.002), and the bilateral CLP and the bilateral lateral incisor agenesis (P = 0.0001). CONCLUSION: Dental anomalies are more frequently seen in patients with CLP compared with the general population. There is a relationship between the cleft type and the ipsilateral lateral incisor agenesis.


Assuntos
Fenda Labial/diagnóstico , Fenda Labial/epidemiologia , Fissura Palatina/diagnóstico , Fissura Palatina/epidemiologia , Anormalidades Dentárias/diagnóstico , Anormalidades Dentárias/epidemiologia , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/epidemiologia , Adolescente , Estudos Transversais , Feminino , Humanos , Masculino , Estudos Retrospectivos , Turquia , Adulto Jovem
8.
Indian J Ophthalmol ; 66(2): 334-336, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29380799

RESUMO

Here, we report a patient with oculodentodigital dysplasia (ODDD) caused by the c. 413G>A, p.Gly138Asp mutation in the gap junction protein alpha-1 gene. The patient suffered from characteristic dysmorphic features of ODDD. Ophthalmological investigation disclosed microcornea and a shallow anterior chamber, as expected. Surprisingly, the patient had a normal axial length and moderate myopia on both eyes. To the best of our knowledge, this is the first report on ODDD associated with relative anterior microphthalmos and myopia.


Assuntos
Anormalidades Múltiplas , Conexina 43/genética , Anormalidades Craniofaciais/diagnóstico , DNA/genética , Anormalidades do Olho/diagnóstico , Deformidades Congênitas do Pé/diagnóstico , Microftalmia/diagnóstico , Sindactilia/diagnóstico , Anormalidades Dentárias/diagnóstico , Adulto , Conexina 43/metabolismo , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/metabolismo , Análise Mutacional de DNA , Anormalidades do Olho/genética , Anormalidades do Olho/metabolismo , Deformidades Congênitas do Pé/genética , Deformidades Congênitas do Pé/metabolismo , Humanos , Masculino , Microftalmia/genética , Microftalmia/metabolismo , Sindactilia/genética , Sindactilia/metabolismo , Tomografia de Coerência Óptica , Anormalidades Dentárias/genética , Anormalidades Dentárias/metabolismo
9.
Int J Pediatr Otorhinolaryngol ; 103: 109-112, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29224748

RESUMO

KBG syndrome is a rare genetic disorder, due to a mutation of ANKRD11, characterized by specific craniofacial dysmorphism, short stature and macrodontia of upper central incisors, intellectual disability and skeletal anomalies. We report a de novo mutation of ANKRD11 gene in a 7-years old girl, affected by KBG syndrome with bilateral conductive hearing loss. The aim of this article was to review the audiological findings of this syndrome.


Assuntos
Anormalidades Múltiplas/diagnóstico , Doenças do Desenvolvimento Ósseo/diagnóstico , Perda Auditiva Condutiva/etiologia , Deficiência Intelectual/diagnóstico , Proteínas Repressoras/genética , Anormalidades Dentárias/diagnóstico , Anormalidades Múltiplas/genética , Audiometria , Doenças do Desenvolvimento Ósseo/complicações , Doenças do Desenvolvimento Ósseo/genética , Criança , Facies , Feminino , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Mutação , Fenótipo , Anormalidades Dentárias/complicações , Anormalidades Dentárias/genética
12.
Eur J Med Genet ; 60(12): 695-700, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28917830

RESUMO

Al-Awadi-Raas-Rothschild syndrome (AARRS; OMIM 276820) is a very rare autosomal recessive limb malformation syndrome caused by WNT7A mutations. AARRS is characterized by various degrees of limb aplasia and hypoplasia. Normal intelligence and malformations of urogenital system are frequent findings. Complete loss of WNT7A function has been shown to cause AARRS, however, its partial loss leads to the milder malformation, Fuhrmann syndrome. An Indian boy affected with AARRS is reported. A novel homozygous base substitution mutation c.550A > C (p.Asn184Asp) is identified in the patient. Parents were heterozygous for the mutation. In addition to the typical features of AARRS, the patient had agenesis of the mandibular left deciduous lateral incisor. The heterozygous parents had microdontia of the maxillary left permanent third molar and taurodontism (enlarged dental pulp chamber at the expense of root) in a number of their permanent molars. Whole exome sequencing of the patient and his parents ruled out mutations in 11 known hypodontia-associated genes including WNT10A, MSX1, EDA, EDAR, EDARADD, PAX9, AXIN2, GREM2, NEMO, KRT17, and TFAP2B. In situ hybridization during tooth development showed Wnt7a expression in wild-type tooth epithelium at E14.5. All lines of evidence suggest that WNT7A has important role in tooth development and its mutation may lead to tooth agenesis, microdontia, and taurodontism. Oral examination of patients with AARRS and Fuhrmann syndromes is highly recommended.


Assuntos
Amenorreia/genética , Ectromelia/genética , Mutação de Sentido Incorreto , Ossos Pélvicos/anormalidades , Anormalidades Dentárias/genética , Útero/anormalidades , Proteínas Wnt/genética , Adulto , Amenorreia/diagnóstico , Animais , Pré-Escolar , Ectromelia/diagnóstico , Epitélio/metabolismo , Homozigoto , Humanos , Masculino , Camundongos , Linhagem , Anormalidades Dentárias/diagnóstico
14.
J Craniofac Surg ; 28(3): 683-687, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28468148

RESUMO

BACKGROUND: Mandibular hypoplasia is a hallmark of Treacher Collins syndrome (TCS), and its severity accounts for significant functional morbidity. The purpose of this study is to develop a mandibular classification scheme. METHODS: A classification scheme was designed based on three-dimensional computed tomography (3D-CT) scans to assess 3 characteristic features: degree of condylar hypoplasia, mandibular plane angle (condylion-gonion-menton), and degree of retrognathia (sella-nasion-B point angle). Each category was graded from I to IV and a composite mandible classification was determined by the median value among the 3 component grades. RESULTS: Twenty patients with TCS, aged 1 month to 20 years, with at least one 3D-CT prior to mandibular surgery were studied. Overall, 33 3D-CTs were evaluated and ordered from least to most severe phenotype with 10 (30%) Grade 1 (least severe), 14 (42%) Grade 2, 7 (21%) Grade 3, and 2 (7%) Grade 4 (most severe). Seven patients had at least 2 longitudinal scans encompassing an average 5.7 (range 5-11) years of growth. Despite increasing age, mandibular classification (both components and composite) remained stable in those patients over time (P = 0.2182). CONCLUSION: The authors present a classification scheme for the TCS mandible based on degree of condylar hypoplasia, mandibular plane angle (Co-Go-Me angle), and retrognathia (SNB angle). While there is a natural progression of the mandibular morphology with age, patients followed longitudinally demonstrate consistency in their classification. Further work is needed to determine the classification scheme's validity, generalizability, and overall utility.


Assuntos
Má Oclusão/cirurgia , Disostose Mandibulofacial/classificação , Disostose Mandibulofacial/cirurgia , Adolescente , Cefalometria/métodos , Criança , Pré-Escolar , Feminino , Humanos , Imagem Tridimensional , Lactente , Masculino , Má Oclusão/classificação , Má Oclusão/diagnóstico , Mandíbula/anormalidades , Disostose Mandibulofacial/diagnóstico , Retrognatismo/classificação , Retrognatismo/diagnóstico , Retrognatismo/cirurgia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/métodos , Anormalidades Dentárias/classificação , Anormalidades Dentárias/diagnóstico , Anormalidades Dentárias/cirurgia , Adulto Jovem
15.
Eur J Hum Genet ; 25(6): 694-701, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-28422132

RESUMO

16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability. To assess whether the haploinsufficiency of ANKRD11-flanking genes, such as ZFPM1, CDH15 and ZNF778, contributed to either the severity of the neurological impairment or was associated with other clinical features, we collected 12 new cases with a 16q24.2q24.3 deletion (de novo in 11 cases), ranging from 343 kb to 2.3 Mb. In 11 of them, the deletion involved the ANKRD11 gene, whereas in 1 case only flanking genes upstream to it were deleted. By comparing the clinical and genetic features of our patients with those previously reported, we show that the severity of the neurological phenotype and the frequency of congenital heart defects characterize the deletions that, besides ANKRD11, contain ZFPM1, CDH15 and ZNF778 as well. Moreover, the presence of thrombocytopenia and astigmatism should be taken into account to distinguish between 16q24 microdeletion syndrome and KBG syndrome. The single patient not deleted for ANKRD11, whose phenotype is characterized by milder psychomotor delay, cardiac congenital malformation, thrombocytopenia and astigmatism, confirms all this data.


Assuntos
Anormalidades Múltiplas/genética , Doenças do Desenvolvimento Ósseo/genética , Deleção Cromossômica , Cromossomos Humanos Par 16/genética , Haploinsuficiência , Deficiência Intelectual/genética , Proteínas Repressoras/genética , Anormalidades Dentárias/genética , Fatores de Transcrição/genética , Anormalidades Múltiplas/diagnóstico , Adolescente , Adulto , Doenças do Desenvolvimento Ósseo/diagnóstico , Caderinas/genética , Criança , Diagnóstico Diferencial , Facies , Feminino , Humanos , Deficiência Intelectual/diagnóstico , Masculino , Proteínas Nucleares/genética , Fenótipo , Anormalidades Dentárias/diagnóstico , Fatores de Transcrição/metabolismo
16.
Am J Med Genet A ; 173(6): 1694-1697, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28422407

RESUMO

Pierre-Robin sequence, radial deviation, and ulnar clinodactyly of the index fingers due to an additional phalangeal bone, as well as heart defects are the key features of Catel-Manzke syndrome. Although mutations in TGDS were identified as the cause of this disorder, the pathogenetic mechanism remains unknown. Here, we report on a fetus with severe heart defect, nuchal edema, talipes, Pierre-Robin sequence, and bilateral deviation and clinodactyly of the index and middle fingers. Pregnancy was terminated at the 22nd week of gestation. Postmortem radiographs showed hypoplasia and V-shaped displacement of the second and third proximal phalanges of both hands as well as hypoplasia of the first metatarsals and the phalangeal bones of the halluces. The suggested diagnosis Catel-Manzke syndrome was confirmed by the detection of two compound heterozygous mutations in TGDS: The known variant c.298G>T; p.(Ala100Ser) and the so far undescribed variant c.895G>A; p.(Asp299Asn), located in the predicted substrate binding site of TGDS. This is the first report on the association of mutations in TGDS with additional anomalies of the middle fingers and halluces. We provide a detailed phenotypic characterization of the only fetus with molecularly confirmed Catel-Manzke syndrome, which is relevant for prenatal diagnosis. Our findings widen the phenotype spectrum caused by TGDS mutations and underline the phenotypic overlap with Temtamy preaxial brachydactyly syndrome. This improves our understanding of the prenatal development and the pathogenetic mechanism of Catel-Manzke syndrome.


Assuntos
Anormalidades Múltiplas/genética , Deformidades Congênitas da Mão/genética , Cardiopatias Congênitas/genética , Hidroliases/genética , Síndrome de Pierre Robin/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/fisiopatologia , Braquidactilia/diagnóstico , Braquidactilia/genética , Braquidactilia/fisiopatologia , Surdez/diagnóstico , Surdez/genética , Surdez/fisiopatologia , Feminino , Feto/fisiopatologia , Dedos/anormalidades , Dedos/fisiopatologia , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/fisiopatologia , Cardiopatias Congênitas/fisiopatologia , Heterozigoto , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Deficiência Intelectual/fisiopatologia , Anormalidades da Boca/diagnóstico , Anormalidades da Boca/genética , Anormalidades da Boca/fisiopatologia , Mutação , Síndrome de Pierre Robin/diagnóstico , Síndrome de Pierre Robin/fisiopatologia , Gravidez , Diagnóstico Pré-Natal , Anormalidades Dentárias/diagnóstico , Anormalidades Dentárias/genética , Anormalidades Dentárias/fisiopatologia
17.
J Clin Pediatr Dent ; 41(2): 150-153, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28288294

RESUMO

OBJECTIVE: The purpose of this study was to investigate the prevalence of peg-shaped maxillary lateral incisors and the incidence of associated dental anomalies in children. STUDY DESIGN: We investigated the prevalence of peg-laterals and incidence of associated dental anomalies in 3,834 children aged 7-15 who visited the Department of Pediatric Dentistry from January 2010 to December 2015 and underwent panoramic radiographs. RESULTS: The prevalence of peg-laterals was 1.69% in boys, 1.75% in girls, and 1.72% overall. Among children with peg-laterals, the frequencies of associated dental anomalies were as follows: congenitally missing teeth, 31.8%; dens invaginatus, 19.7%; palatally displaced canines, 12.1%; supernumerary teeth, 7.6%; and transposition, 7.6%. CONCLUSION: As children with peg-laterals have a higher incidence of other dental anomalies, careful consideration is needed when planning diagnosis and treatment.


Assuntos
Incisivo/anormalidades , Anormalidades Dentárias/diagnóstico , Adolescente , Criança , Feminino , Humanos , Masculino , Maxila , Estudos Retrospectivos
18.
Genet Med ; 19(9): 1013-1021, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28301459

RESUMO

PURPOSE: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. The molecular basis of BCD syndrome remains unknown. METHODS: We recruited 11 patients from 8 families and performed exome sequencing for 5 families with de novo BCD syndrome cases and targeted Sanger sequencing in the 3 remaining families. RESULTS: We identified five CDH1 heterozygous missense mutations and three CTNND1 heterozygous truncating mutations leading to loss-of-function or haploinsufficiency. Establishment of detailed genotype-phenotype correlations was not possible because of the size of the cohort; however, the phenotype seems to appear more severe in case of CDH1 mutations. Functional analysis of CDH1 mutations confirmed their deleterious impact and suggested accelerated E-cadherin degradation. CONCLUSION: Mutations in CDH1 encoding the E-cadherin were previously reported in hereditary diffuse gastric cancer as well as in nonsyndromic cleft lip/palate. Mutations in CTNND1 have never been reported before. The encoded protein, p120ctn, prevents E-cadherin endocytosis and stabilizes its localization at the cell surface. Conditional deletion of Cdh1 and Ctnnd1 in various animal models induces features reminiscent of BCD syndrome and underlines critical role of the E-cadherin-p120ctn interaction in eyelid, craniofacial, and tooth development. Our data assert BCD syndrome as a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1 and widen the phenotypic spectrum of E-cadherin anomalies.Genet Med advance online publication 09 March 2017.


Assuntos
Caderinas/genética , Cateninas/genética , Fenda Labial/diagnóstico , Fenda Labial/genética , Fissura Palatina/diagnóstico , Fissura Palatina/genética , Ectrópio/diagnóstico , Ectrópio/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Mutação , Anormalidades Dentárias/diagnóstico , Anormalidades Dentárias/genética , Antígenos CD , Caderinas/química , Caderinas/metabolismo , Cateninas/química , Cateninas/metabolismo , Linhagem Celular , Fenda Labial/metabolismo , Fissura Palatina/metabolismo , Biologia Computacional , Análise Mutacional de DNA , Ectrópio/metabolismo , Éxons , Facies , Feminino , Expressão Gênica , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Modelos Moleculares , Linhagem , Fenótipo , Conformação Proteica , Transporte Proteico , Anormalidades Dentárias/metabolismo
19.
Med. oral patol. oral cir. bucal (Internet) ; 22(2): e228-e232, mar. 2017. tab
Artigo em Inglês | IBECS | ID: ibc-161241

RESUMO

Background: An eruption cyst (EC) is a benign, developmental cyst associated with a primary or permanent tooth. This paper presents 66 ECs in 53 patients who reported to 3 different centers in Turkey between 2014-2015. Material and Methods: 53 patients (31 male, 22 female) with 66 ECs were diagnosed and treated over a 1-year period. The mean age of patients was 5.4 years (minimum 5 months, maximum 11 years). Clinical examination and periapical radiographs were used to establish diagnosis. Age, gender, site, history of trauma and type of treatment were recorded. Results: Of the 66 ECs diagnosed in 53 patients, more than half (56.6%) were located in the maxilla, with the maxillary first primary molars the teeth most commonly associated with ECs (30.3%). Multiple ECs were diagnosed in 13 of the 53 patients. ECs had previously diagnosed in the primary dentition of 2 patients, 3 patients reported a history of trauma to primary teeth. In the majority of patients (46 cases, 86.8%), no treatment was provided, whereas surgical treatment was provided in the remaining 7 cases (13.2%). Conclusions: Eruption cysts are usually asymptomatic and do not require treatment;. however, if the cyst is symptomatic, it should be treated with simple surgical excision (AU)


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Assuntos
Lactente , Pré-Escolar , Criança , Humanos , Cistos Odontogênicos/diagnóstico , Anormalidades Dentárias/diagnóstico , Erupção Dentária , Dente Decíduo/anormalidades , Dentição Permanente
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