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The thyroid hormone receptor interactor 11 (TRIP11) gene encodes the Golgi microtubule-associated protein 210 (GMAP-210), a protein essential for the operation of the Golgi apparatus. It is known that null mutations in TRIP11 disrupt Golgi function and cause a lethal skeletal dysplasia known as achondrogenesis type 1A (ACG1A), however recently, hypomorphic mutations in that gene have been linked to odontochondrodysplasia (ODCD), a nonlethal skeletal dysplasia characterized by skeletal changes in the spine and in the metaphyseal regions, associated with dentinogenesis imperfecta. Here we present two patients reflecting the phenotypic spectrum related to different TRIP11 variants. The first is a female child with ODCD, for whom a homozygous in-frame splicing mutation in intron 9 of TRIP11 was identified. The mutation appears to lead to the expression of an alternative TRIP11 transcript, that may explain the less severe radiological alterations in ODCD. The second is a fetus with classical form of ACG1A, associated with typical molecular findings (frameshift) in exon 11 of TRIP11, both novel mutations. The two patients reported here represent the TRIP11 spectrum of skeletal dysplasia ranging from mild to lethal phenotypes, thereby enabling one to suggest a genotype-phenotype correlation in these diseases.

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Dentinogenesis imperfecta is an autosomal dominant genetic disorder with abnormal dentin structure affecting both primary and permanent dentitions leading to discolouration and attrition of teeth. Diagnosis is usually based on family history, a detailed clinical examination and pedigree construction. Treatment involves preservation of teeth, removal of infection, restoration of function and esthetics.

La dentinogénesis imperfecta es un trastorno genético autosómico dominante, caracterizado por una estructura anormal de la dentina, que afecta tanto la dentición temporal como permanente, generando decoloración y desgaste de los dientes. El diagnóstico generalmente se basa en la historia familiar, el examen clínico detallado y la construcción de pedigrí. Su tratamiento implica la conservación de los dientes, eliminación de infección, y la restauración de la función y la estética.

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BACKGROUND: Type II dentinogenesis imperfecta (DGIII) is an autosomal dominant dental development anomaly that affects both the primary and permanent dentition. CASE REPORT: This case report describes the clinical, radiographic and morphological characteristics of the teeth of a seven-year-old child with DGI-II determined by optical microscopy and scanning electron microscopy. TREATMENT: This consisted of extraction of the primary teeth with periapical lesions due to the advanced state of tooth resorption. Aesthetic restorations were performed on the mandibular anterior teeth and occlusal fissure sealants were applied to erupting teeth. A removable partial upper denture was made in order to return anterior aesthetic function and to aid mastication and speech. FOLLOW UP: The child was examined at 3 month intervals. Over the following 3 years the prosthesis was replaced due to facial growth and fluoride was applied at each follow-up visit to all teeth. The patient remains in follow up and management. CONCLUSION: Individuals with DGI-II must not neglect their dental health. Early diagnosis, professional advice and treatment with periodic follow-up can help improve the quality of life of such patients.

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The aim of this study was to perform phenotype analysis and dentin sialophosphoprotein (DSPP) mutational analysis on 3 Brazilian families diagnosed with dentinogenesis imperfecta type II (DGI-II) attending the Dental Anomalies Clinic in Brasilia, Brazil. Physical and oral examinations, as well as radiographic and histopathological analyses, were performed on 28 affected and unaffected individuals. Clinical, radiographic and histopathological analyses confirmed the diagnosis of DGI-II in 19 individuals. Pulp stones were observed in ground sections of several teeth in 2 families, suggesting that obliteration of pulp chambers and root canals results from the growth of these nodular structures. Mutational DSPP gene analysis of representative affected family members revealed 7 various non-disease-causing alterations in exons 1-4 within the dentin sialoprotein domain. Further longitudinal studies are necessary to elucidate the progression of pulpal obliteration in the DGI-II patients studied as well as the molecular basis of their disease.

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O objetivo deste artigo é relatar dois casos de dentinogênese imperfeita, tipo III e tipo II, respectivamente, em crianças, enfatizando a importância do diagnóstico e do tratamento reabilitador. Clinicamente, em ambos os casos, constataram-se destruição dos molares decíduos, perda de dimensão vertical e coloração cinza-acastanhada dos elementos dentários. Vale ressaltar que em relação à criança com dentinogênese imperfeita tipo III, o diagnóstico foi fechado após exame histopatológico. No entanto, devido as constantes faltas às consultas para realização do tratamento, o mesmo encontra-se em andamento. Já, quanto ao caso da dentinogênese imperfeita tipo II, o tratamento reabilitador baseou-se na reconstrução dos molares decíduos com coroas de aço pré-fabricadas e restaurações estéticas nos caninos decíduos e incisivos inferiores permanentes, restabelecendo a estética e função.

This paper aimed to report two cases of type III and type II dentinogenesis imperfecta, in children, emphasizing the diagnosis and the rehabilitation treatment importance. Intraoral examination, in both cases, revealed destruction of the deciduous molars, dimension vertical loss and gray coloring of the teeth. Besides, in relation to the child with type III dentinogenesis imperfecta, a histopathologic exam was done to conclude the diagnosis. On the other hand, the all treatment of this child cannot be realized, because his constant faults. In relation to the other case, the rehabilitation treatment aimed to reconstruct the deciduous molars with steel crowns and aesthetic restorations on the deciduous canines and permanent lower incisives, reestablishing the aesthetic and function.

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BACKGROUND: Osteogenesis imperfecta is a genetic disorder characterized by defects in type I collagen. The main symptom is bone fragility and susceptibility to fractures. Other clinical findings are dentinogenesis imperfecta, blue sclera, early deafness and joint laxity. The purpose of this paper is to establish a practical relationship of the clinical differences between the Sillence's groups. METHODS: 22 patients were classified according to Sillence et al criteria and submitted to laboratory tests including blood calcium level and bone densitometry. RESULTS: All clinical and laboratory differences were discussed in the text. CONCLUSIONS: Differences such as results that were found in walking ability, height and bone densitometry were significant and may help to classify patients and to establish prognosis.

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OBJETIVOS: A osteogênese imperfeita (OI) é uma doenca genética, caracterizando-se por alteracões no colágeno do tipo I, que determinam um espectro amplo de alteracões clínicas, como a dentinogênese imperfeita e escleras azuladas. O objetivo deste estudo é estabelecer uma correlacão prática no diagnóstico diferencial intergrupos dentro da classificacão de Sillence et al. (1979). MÉTODOS: Foram avaliados 22 pacientes mediante critérios clínicos e radiográficos. Após, a subdivisão de acordo com os tipos de Sillence et al. (1979), os pacientes foram também submetidos à avaliacão laboratorial e à densitometria óssea. RESULTADOS: Os dados significantes para diferenciacão entre os tipos da doenca foram a estatura, o número total de fraturas por indivíduo e a densitometria óssea. O cálcio sérico não diferencia os tipos da doenca. CONCLUSÕES: Características como a deambulacão, a estatura e a densitometria óssea podem auxiliar na diferenciacão entre os subtipos dos portadores da doenca, repercutindo diretamente no estabelecimento do seu prognóstico.

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A dentinogênese imperfeita é uma anomalia do tecido dentinário de caráter hereditário que afeta ambas as dentiçöes. Os autores relatam casos com envolvimento da dentiçäo decídua em indivíduos de uma mesma família, discutindo os principais aspectos desta patologia bem como sua abordagem clínica

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Dentinogênese Imperfeita é uma rara alteraçäo hereditária que se caracteriza por alteraçäo da consistência da estrutura dentinária resultando em modificaçäo da coloraçäo do dente e perda de suporte para o esmalte, agravando a atriçäo e perda da dimensäo vertical. Um caso de Dentinogênese Imperfeita é descrito, onde o paciente apresentava sinais característicos da alteraçäo em toda a dentiçäo permanente, com ausência de manifestaçöes no tecido ósseo, eliminando a possibilidade dela estar associada à osteogênese imperfeita

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This paper presents a case of dentinogenesis imperfecta Type I occurring in a patient with familial tarda type osteogenesis imperfecta. The investigation and management of this patient is described.

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