Craniometaphyseal Dysplasia With Severe Craniofacial Involvement Shows Homozygosity at 6q21-22.1 Locus

Craniotubular dysplasias (CTD) are a heterogeneous group of genetic disorders of skeletal development, whose clinical and etiological classification is still much debated. One of the most common form is the autosomal dominant craniometaphyseal dysplasia (CMD) which is associated with mutation in the ANKH gene. In the literature a few families are reported with CMD phenotype that suggest an autosomal recessive (AR) pattern of inheritance. A candidate locus at 6q21-22 has been mapped in a large inbred Brazilian family, but the gene of the recessive form is still unknown. Our data on a female patient with CMD phenotype, born from healthy first degree cousins and displaying homozygosity for polymorphic markers at the 6q21-22 locus, further support the existence of an AR CMD, expanding its clinical spectrum to a more severe phenotype. (C) 2011 Wiley-Liss, Inc.

Rotavirus gastroenteritis in a children's hospital specialized in craniofacial malformations

This study aimed to verify the relationship between acute diarrhea provoked by rotavirus and different indicators of craniofacial malformations. In the Hospital for Rehabilitation of Craniofacial Anomalies, 8,724 children with cleft lip and cleft palate were divided into the following groups: acute diarrhea and infection due to rotavirus (C1, n = 62), acute diarrhea (C2, n = 153) and without acute diarrhea (C3, n = 8,509). In C1, 29.03% of the cases consisted of hospital infections associated with the hospitalization period while 38.71% of the patients were aged less than six months. The percentage of children not having breastfed was significantly higher in acute diarrhea groups. Additionally, there was a seasonal prevalence of rotavirus infection between May and October. Finally, the present findings indicate that rotavirus is a predominant etiological agent for gastroenteritis in children with craniofacial malformations. Moreover, among infants younger than six months of age, type of craniofacial malformation, breastfeeding difficulty, socioeconomic level and longer hospitalization period appear to contribute to higher infection morbidity.

O significado do trabalho em equipe na reabilitação de pessoas com malformação craniofacial congênita

Este estudo objetivou compreender o significado do trabalho em equipe dos profissionais de reabilitação em anomalias craniofaciais. Realizou-se análise fenomenológica por contemplar a compreensão e interpretação do sentido considerando o sujeito. Entrevistou-se 12 profissionais de diferentes áreas, norteadas pela questão: O que significa para você trabalhar em equipe na reabilitação de anomalias craniofaciais? Resgatando-se os temas: Capacitação para o trabalho, Dificuldade para trabalho em equipe, Relação com paciente e família, Condições de trabalho e A inserção do profissional na equipe. A análise visou refletir o fenômeno engendrando convergências e divergências destacando a explicitação das diferenças e aprendizado contínuo.

Rapid Prototyping applied to surgical planning for correcting craniofacial malformations in wild animals. A case study of a brazilian fox

Veterinary surgery for treatment of wild animals is becoming an increasingly demanding task because it involves animals of different anatomy, many of them are already stressed and treatment must be performed to the highest standard in the minimum period of time. Craniofacial alterations may occur for three main reasons: genetic, functional or a combination of both. It is possible to modify the functional cause using intraoral devices like inclined plane. The treatment planning can be made based on virtual 3D models and rapid prototyping. An approximately 9 months old, 3.7 kg male Brazilian fox (Lycalopex vetulus) was referred to the Veterinary Hospital. Physical examination showed malocclusion with a deviation of the mandible to the right side. The virtual 3D model of the head was generated based on CT image data. The 3D models and rapid prototyping opened up new possibilities for the surgical planning and treatment of wild animals.

Monostotic Fibrous Dysplasia of the Mandible

Fibrous dysplasia is a benign fibro-osseous disease that affects 1 or more bones. Deformities leading to aesthetic and functional disorders are observed in almost all cases. Plastic surgery is often recommended when the jaws are involved. Monostotic fibrous dysplasia of the mandible is an unusual manifestation of the disease that is usually benign, occurs in young individuals, and is managed by conservative curettage or debridement, such as surgical sculpting. The authors report a case of a 15-year-old patient with a large monostotic fibrous dysplasia located in the right mandible, which was treated by contouring bone. The lesion did not recur on follow-up for 4 years after the surgical procedure.

Retention Systems to Implant-Supported Craniofacial Prostheses

Osseointegrated implants in craniofacial reconstructions improve prostheses retention and stability and comfort and safety for a patient. According to biomechanical principles, the treatment success regarding osseointegration maintenance depends on an adequate surgical technique associated to a retention system that provides favorable tension distribution to implants. Furthermore, patient expectation, esthetics, function, and anatomic limitations must be evaluated during treatment planning. Therefore, the aims of this study were to present available retention systems to implant-supported craniofacial prosthesis and to highlight the advantages, indications, and limitations. A literature review was conducted through a MEDLINE search. Sixteen articles and 2 textbooks met the inclusion criteria and were included in the review. It was concluded that the success of craniofacial rehabilitation with implants depends on an adequate surgical technique and an adequate selection of a retention system.

Evaluating craniofacial asymmetry with digital cephalometric images and cone-beam computed tomography

Introduction: The aim of this study was to evaluate craniofacial asymmetry by using 2-dimensional (2D) poster-oanterior cephalometric images, 3-dimensional cone-beam computed tomography (CBCT), and physical measurements (gold standard). Methods: Ten dry human skulls were assessed, and radiopaque markers were placed on 17 skeletal landmarks. Twenty linear measurements were taken on each side to compare the right and left sides and to compare these measurements with the physical measurements made with a digital caliper. To acquire the 2D posteroanterior radiographs, an Extraoral Phosphor Storage Plate (Air Techniques, Chicago, Ill) was used as the image receptor with a Eureka x-ray-Duocon Machlett unit (Machlett Laboratores, Chicago, Ill). Three-dimensional imaging data were acquired from a CB MercuRay (Hitachi Medical, Tokyo, Japan). Results: on average, the right side was larger than the left for most of the 20 distances evaluated in the digital 2D and the CBCT images, and there was poor agreement between the digital 2D images and the physical measurements (kappa = 0.0609) and almost perfect agreement (kappa = 0.92) between the CBCT and physical measurements when individual measurements were considered. Conclusions: Human skulls, with no apparent asymmetry, had some differences between the right and left sides, with dominance for the right side but with no clinical significance. CBCT can better evaluate craniofacial morphology when compared with digital 2D images. (Am J Orthod Dentofacial Orthop 2011; 139: e523-e531)

Morphological deformities in the osseous structure in spotted sorubim Pseudoplatystoma coruscans (agassiz & spix, 1829) with vitamin c deficiency

A vitamina C é essencial para dietas de peixe porque muitas espécies não conseguem sintetizá-la. Esta vitamina é necessária par a formação de cartilagem e matriz óssea. Além disso, age como antioxidante e melhora as resposta do sistema imunológico. O presente trabalho investigou os efeitos da suplementação de vitamina C em dietas para alevinos de pintado (Pseudoplatystoma corruscans) pela incidência de deformidades na estrutura óssea e cartilaginosa. O ascorbil polifosfato (AP) foi utilizado como fonte de vitamina C em dietas para alevinos de pintado durante o período de três meses. Seis dietas foram formuladas: uma dieta controle (0 mg de vitamina C / kg) e cinco dietas 500, 1.000, 1.500, 2.000 e 2.500 mg de AP / kg. Os peixes alimentados sem suplementação de vitamina C apresentaram deformidades óssea na cabeça e mandíbula e fragilidade de nadadeiras. Assim, a dieta de 500 mg de AP/kg foi suficiente para prevenir a ocorrência de deformidades, e a ausência desta vitamina prejudica o desenvolvimento ósseo de juvenis de pintados.

Occurrence of skeletal malocclusions in Brazilian patients with dentofacial deformities

Este estudo avaliou a ocorrência de más oclusões esqueléticas apresentadas pelos pacientes do Centro de Pesquisa e Tratamento das Deformidades Bucofaciais (CEDEFACE), na cidade de Araraquara, SP, Brasil. Foram avaliados prontuários de 381 pacientes com deformidades dentoesqueléticas, que fizeram tratamento combinado ortodôntico-cirúrgico no período entre 2000 e 2006. Após a seleção da amostra (método de conveniência), baseado nos dados da documentação pré e pós-cirúrgica, o número de pacientes foi reduzido para 171. Para classificação do levantamento, considerou-se a discrepância ântero-posterior (Classe I, II e III), raça, idade, gênero, ausência ou presença de assimetria, excesso vertical maxilar e biprotrusão maxilar, além de determinar em qual base óssea o procedimento cirúrgico foi realizado. As documentações dos pacientes foram analisadas por um examinador previamente calibrado pelo processo de repetição até que o método fosse considerado adequado (correlação intraclasse >0,94). A idade média dos pacientes foi de 23,59 anos (DP 6,93), a maioria do gênero feminino (102 pacientes) e leucoderma (160 pacientes). A má oclusão mais prevalente foi a Classe III (81 pacientes). A assimetria, o excesso maxilar vertical e biprotrusão maxilar estavam presentes em 54, 33, e 7 pacientes, respectivamente. Na maioria dos casos, as cirurgias para correção de deformidades dentoesqueléticas foram combinadas, envolvendo os dois maxilares. Com base nos resultados, conclui-se que a Classe III foi a deformidade esquelética mais prevalente e a Classe I a menos prevalente. em geral, a prevalência de deformidades esqueléticas foi maior entre as mulheres e a maioria dos pacientes apresentou uma combinação de problemas maxilares e mandibulares, o que interfere diretamente na decisão sobre o plano de tratamento mais adequado. Houve uma maior incidência de assimetria na Classe III esquelética; o excesso vertical ocorreu de forma semelhante na Classe II e III e a biprotrusão teve baixa incidência entre as más oclusões avaliadas.

Management of an Unusual Presentation of Ascher Syndrome

Ascher syndrome is defined by the association between double lip, blepharochalasis, and nontoxic goiter. Because it is a rare disease, it is most often misdiagnosed, despite its implications for quality of life. We report a variation of an incomplete type of Ascher syndrome affecting the upper lip, upper eyelids, and lateral canthi of a young male patient. The surgical management, follow-up, and a brief overview of the syndrome are described. The results presented show an aesthetic and functional improvement of the facial deformities.

Role of annexin 1 gene expression in mouse craniofacial bone development

BACKGROUND: Annexin 1 is a 37-kDa protein that has complex intra- and extracellular effects. To discover whether the absence of this protein alters bone development, we monitored this event in the annexin-A1 null mice in comparison with littermate wild-type controls. METHODS: Radiographic and densitometry methods were used for the assessment of bone in annexin-A1 null mice at a gross level. We used whole-skeleton staining, histological analysis, and Western blotting techniques to monitor changes at the tissue and cellular levels. RESULTS: There were no gross differences in the appendicular skeleton between the genotypes, but an anomalous development of the skull was observed in the annexin-A1 null mice. This was characterized in the newborn annexin-A1 null animals by a delayed intramembranous ossification of the skull, incomplete fusion of the interfrontal suture and palatine bone, and the presence of an abnormal suture structure. The annexin-A1 gene was shown to be active in osteocytes during this phase and COX-2 was abundantly expressed in cartilage and bone taken from annexin-A1 null mice. CONCLUSIONS: Expression of the annexin-A1 gene is important for the normal development of the skull in mice, possibly through the regulation of osteoblast differentiation and a secondary effect on the expression of components of the cPLA2-COX-2 system. © 2007 Wiley-Liss, Inc.

Avaliação do crescimento e desenvolvimento craniofacial em crianças pré e pós adenotonsilectomia

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Análise dos genes GL1 E PTCH1 em indivíduos com anomalias craniofaciais de linha média, olho e face

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

A influência do padrão respiratório no crescimento craniofacial

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Influência da hiperplasia condilar no crescimento craniofacial e estabilidade do tratamento de pacientes classe III pós surto de crescimento pubertáro

Pós-graduação em Ciências Odontológicas - FOAR