Дисертації з теми "Craniofacial syndromes"
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Cloonan, Yona Keich. "Sleep outcomes in children with craniofacial microsomia /." Thesis, Connect to this title online; UW restricted, 2007. http://hdl.handle.net/1773/10877.
Повний текст джерелаInstrum, Susette M. "Cephalometric comparison of the craniofacial skeletal morphology between Moebius syndrome and non-syndromic controls." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape8/PQDD_0015/MQ46507.pdf.
Повний текст джерелаNguyen, Tung Thanh Wright J. Timothy. "Craniofacial variations in the tricho-dento-osseus syndrome." Chapel Hill, N.C. : University of North Carolina at Chapel Hill, 2008. http://dc.lib.unc.edu/u?/etd,1766.
Повний текст джерелаTitle from electronic title page (viewed Sep. 16, 2008). "... in partial fulfillment of the requirements for the degree of Master of Science in the School of Dentistry Orthodontics." Discipline: Orthodontics; Department/School: Dentistry.
Britto, Jonathan Anthony. "Syndromic craniofacial dysostosis : from genotype to phenotype: studies of FGFR gene expression in human craniofacial development and craniosynostosis." Thesis, University College London (University of London), 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.268446.
Повний текст джерелаGROLLEAU, MERCIER CHRISTINE. "Le syndrome de marden-walker." Lille 2, 1988. http://www.theses.fr/1988LIL2M155.
Повний текст джерелаProudman, Timothy William. "Crouzon syndrome : a clinical and three dimensional radiographic analysis of craniofacial morphology and surgery /." Title page, contents and summary only, 1995. http://web4.library.adelaide.edu.au/theses/09MS/09msp968.pdf.
Повний текст джерелаPerkiömäki, M. R. (Marja Riitta). "Craniofacial shape and dimensions as indicators of orofacial clefting and palatal form:a study on cleft lip and palate and Turner syndrome families." Doctoral thesis, University of Oulu, 2008. http://urn.fi/urn:isbn:9789514288708.
Повний текст джерелаGould, Rebekah. "Dose and time dependence of alcohol exposure in relation to craniofacial dysmorphisms in fetal alcohol syndrome." Thesis, Boston University, 2013. https://hdl.handle.net/2144/21158.
Повний текст джерелаThe National Institutes of Health defines Fetal Alcohol Syndrome (FAS) as a debilitating collection of birth defects that include craniofacial dysmorphisms, neurological and motor insufficiencies, growth retardation, and behavioral and social discrepancies. Characteristic craniofacial abnormalities, which include smooth philtrum, thin vermillion border, short palpebral fissures, and microcephaly, are used as a diagnostic tool for FAS. There is agreement across the literature that the characteristic craniofacial dysmorphisms are induced as a result of prenatal alcohol exposure in very specific doses, and during very particular time periods during embryonic development. However, ambiguity still exists about the critical time and dose relationship of prenatal alcohol exposure in the production of FAS. In regards to the critical timing, researchers have concluded that prenatal alcohol exposure during the second half of the first trimester, defined as days 43-94 postconception, was found to cause an increased incidence of smooth philtrum, thin vermillion border, microcephaly and reduced birth weight. Conversely, other studies found that prenatal alcohol exposure on day 7 of gestation in mice, which corresponds to week 3 of human gestation, induced craniofacial abnormalities comparable to those seen in humans with FAS. In regards to the critical dose, there is a linear relationship between the dose of prenatal alcohol exposure and the incidence of FAS-related craniofacial abnormalities, with no safe threshold. It was also found that a binge pattern of drinking was more significantly associated with the craniofacial abnormalities seen in FAS than a continuous or less condensed pattern of drinking, even if the binge pattern involved a smaller absolute dose of alcohol. These results regarding both dose and pattern on prenatal alcohol exposure, suggest that binge-drinking patterns are most significantly associated with craniofacial abnormalities if consumed before pregnancy or during late pregnancy, whereas absolute high doses of alcohol in a non-binge pattern were most significantly associated with craniofacial abnormalities in the first trimester. Further research is required for clarification of the critical time and dose relationships involved in the production of the characteristic craniofacial dysmorphisms seen in FAS. A definite conclusion will aid in the public education and prevention programs for FAS if solid information can be provided about the harms of alcohol consumption during pregnancy in regards to timing and dose.
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Naidoo, Sudeshi. "Fetal alcohol syndrome in the Western Cape : craniofacial and oral manifestations : a case control study." Thesis, Stellenbosch : Stellenbosch University, 2003. http://hdl.handle.net/10019.1/53425.
Повний текст джерелаENGLISH ABSTRACT: Introduction: Fetal alcohol syndrome (FAS) consists of multi-system abnormalities and is caused by the excessive intake of alcohol during pregnancy. The teratogenic effect of alcohol on the human fetus has now been established beyond reasonable doubt and FAS is the most important human teratogenic condition known today. The syndrome, first described by Lemoine in1968 in the French literature and in the English literature by Jones and Smith in 1973, has since been corroborated by numerous animal and human studies. This study has grown out of several epidemiological, prenatal and infant studies in areas of the Western Cape that are currently being undertaken by the Foundation for Alcohol Related Research (FARR). Preliminary data from studies in Wellington have confirmed that a significant proportion of school-entry children have FAS. The prevalence ofF AS in this community exceeds that for Down syndrome by a factor of30 times. The frequency ofFAS in high-risk populations of the Western Cape is the highest reported anywhere in the world. With this background, and the paucity of FAS literature related to dentistry, the aim of this study was to determine the craniofacial and oral manifestations ofF AS in a sample of school-going children in the Western Cape. Methodology: This study is a descriptive, case-control, cross-sectional study using a random cluster sampling method. On the day of examination, children were weighed, and their height and head circumference were measured. They then had photographs and radiographs taken, followed by an oral examination. For each child, the following information was recorded on the data capture sheet: date of birth, gender, head circumference, weight and height, enamel opacities, dental fluorosis, plaque index, gingival bleeding index, dentition status, oral mucosal lesions and dentofacial anomalies. Results: The total sample of90 children with diagnosed FAS and 90 controls, were matched for age, gender and social class. There were no significant age differences between the two groups (p=0.3363) and the mean ages were 8.9 and 9.1 for the FAS and control groups respectively. Head circumference (HC) differed significantly between the two groups (p
Opper, Björn. "Compromised affect and learning associated with Crouzon syndrome a clinical case study /." Pretoria : [s.n.], 2006. http://upetd.up.ac.za/thesis/available/etd-10022007-132545/.
Повний текст джерелаPoggemeier, Paige A. "Parental Impressions of Genetic Services for Individuals with Treacher Collins Syndrome." University of Cincinnati / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1554214679109186.
Повний текст джерелаEpstein, Debra Lee. "Morphometric analysis of the craniofacial development in the CD-1 mouse embryo exposed to alcohol on gestational day eight /." The Ohio State University, 1986. http://rave.ohiolink.edu/etdc/view?acc_num=osu1487266011221703.
Повний текст джерелаCarvalho, Luciana Alves de Souza. "Habilidades funcionais de autocuidado, mobilidade e função social em crianças com fissura labiopalatina e Espectro Óculo-Aurículo-Vertebral (EOAV)." Universidade de São Paulo, 2016. http://www.teses.usp.br/teses/disponiveis/25/25143/tde-28062016-080754/.
Повний текст джерелаCraniofacial anomalies cause aesthetic and functional impairments with major impact on health and social integration of children with interference in global and social development. Craniofacial anomalies of this study addressed the cleft lip and palate (CLP) and the Spectrum goggles Atrium Vertebral (OAVS). The FLP constitute defects resulting from lack of complete closure of the tissues that make up the lip and the palate. The OAVS, also known as Goldenhar syndrome is a congenital anomaly of unknown etiology, with genetic variable manifestation and cause very heterogeneous. Knowing the functional abilities and their impact on the overall development of children with OAVS and FLP can optimize the development of prevention and intervention programs to promote health and social integration of individuals. This study was designed in order to verify and compare the performance of functional skills in performance in the areas of self-care, mobility, social function and level of independence among children OAVS, children with CLP and a comparison group of children without defects. The research model was crosssectional observational with a sample of 39 parents / guardians of children aged between three and seven years and six months, of both genders. Were invited to attend parent / guardians of children undergoing treatment at the Craniofacial Anomalies Rehabilitation Hospital of the University and São Paulo (HRAC-USP) were divided into three groups: two experimental and comparison group. The instrument for data collection of functional abilities was the Pediatric Evaluation of Disability Inventory (PEDI), in its version adapted to Portuguese. The evaluation is carried out through interviews with the caregiver, which should know to report on the performance of the child in typical activities and tasks of daily routine. The data were presented by descriptive analysis with measures of central tendency (arithmetic mean), dispersion (standard deviation) and frequency distribution, the variables: age, gender and socioeconomic status of the family and characterization of the series. For the analysis of raw scores and rules of ask questionnaire with regard to the functional skills and caregiver assistance in three areas of self-care function, mobility and social function, One Way variance test was used, and the normality test Shapiro Wilk was used for dependent variable. The comparative analysis was performed using the Kruskal-Wallis test, adopting the significance p value <0.05. The results of this study in comparative analysis on functional mobility skills, there was a statistically significant difference when comparing the GC vs GEEOAV groups in the raw score, and between the GC and GC vs vs GEEOAV GEFLP groups in normativo.Na score caregiver assistance self-care, there was a statistically significant difference when comparing the GC vs GEEOAV groups, the score normativo.Na caregiver assistance in mobility, there was a statistically significant difference when comparing the GC vs GEEOAV groups in the raw scores and normativo.Na caregiver assistance social function was no statistically significant difference when comparing the GC vs GEFLP groups.
Dalben, Gisele da Silva. "Disgenesias dentárias, alterações de tecido mole e morfologia craniofacial em pacientes com síndrome velocardiofacial e síndrome G/BBB." Universidade de São Paulo, 2007. http://www.teses.usp.br/teses/disponiveis/25/25136/tde-09112007-105451/.
Повний текст джерелаThis study investigated the prevalence of tooth abnormalities, soft tissue changes and cephalometric analysis in patients with velocardiofacial syndrome and G/BBB syndrome. The presence of tooth abnormalities was evaluated in patients older than six years; cephalometric analysis was conducted on lateral cephalograms obtained before any orthodontic intervention. The study sample for the velocardiofacial syndrome included 26 patients for analysis of tooth abnormalities and soft tissue changes, and 18 patients for cephalometric analysis. For the G/BBB syndrome, 21 patients were analyzed as to the presence of tooth abnormalities and soft tissue changes, and 23 patients for cephalometric analysis. Only white patients were included. The occurrence of tooth abnormalities and supernumerary teeth was compared to patients without any morphofunctional alterations, matched for gender and age. For cephalometric analysis, the lateral cephalograms were manually traced; tracings were digitized and the variables were measured on the software Dentofacial Planner 7.0. For this analysis, patients were also compared to individuals without malformations, matched for gender and age. For the velocardiofacial syndrome, 76.92% of patients presented at least one tooth abnormality, with predominance of hypoplastic alterations, especially represented by hypodevelopment of the lingual cusp of mandibular first premolars and enamel opacities; the occurrence of tooth agenesis and supernumerary teeth was similar to that observed in the control group. Cephalometric analysis revealed reduced length of the skull base (total and of the posterior portion); retrusion and reduction of posterior height of the maxilla; increased gonial angle; increased interincisal angle; greater lingual inclination of mandibular incisors; reduced nasolabial angle; and reduced nasal depth, compared to the control group. Concerning the G/BBB syndrome, 95.23% of patients presented at least one tooth abnormality, with predominance of hypoplastic alterations; the frequency of tooth agenesis and supernumerary teeth was significantly higher compared to the control group. Ankyloglossia was observed in 11 of 21 patients. Cephalometric analysis revealed increased cranial base angle; greater retrusion of nasal bones; shortening of mandibular ramus, reduced mandibular length, and mandibular retrusion; greater maxillomandibular discrepancy, with greater facial convexity; greater lingual inclination of maxillary and mandibular incisors; more vertical growth pattern; more flattened nose, shorter nasal bridge, greater nasal retrusion and reduced nasal depth, compared to the control group. In conclusion, during evaluation of patients with suspected diagnosis of the syndromes, investigation of the occlusal anatomy of mandibular premolars in case of velocardiofacial syndrome, and of the presence of mandibular anterior supernumerary teeth and ankyloglossia for the G/BBB syndrome are suggested. Cephalometric analysis also indicated significant differences in several variables, simultaneously serving as parameter for description of syndromes and requiring a customized treatment protocol for these patients.
Inocêncio, Aline Cássia. "Morfologia craniofacial e padrão de apinhamento dentário em adolescentes e adultos jovens com Síndrome de Apert." Universidade de São Paulo, 2017. http://www.teses.usp.br/teses/disponiveis/23/23132/tde-23082017-120348/.
Повний текст джерелаApert syndrome is characterized by craniosynostosis and syndactyly of the fingers and toes. These malformations cause a decrease in the growth of the skull base with facial hypoplasia associated with severe maxillary retrusion and can impose immense suffering on both the function and the aesthetics of the affected person. The treatment includes several surgical procedures that are tailored to the needs of the affected individual. The aim of this study was to evaluate the craniofacial morphology and dental arches of adolescents and young adults with Apert\'s Syndrome comparing them with a control group. Twenty-two patients who underwent concomitant computed tomography (CBCT) examination and evaluation were evaluated. The sample consisted of one study group (G1) and one control group (G2). In the G1 group, 11 individuals with Apert syndrome were included between 11 and 22 years of age. In the G2 group, individuals were paired by gender and age to the G1 group and with balance of facial relations and class I occlusion. Cephalometric measurements and model analysis were performed in Dolphin 3D software for descriptive analysis of frontal and lateral norm, cranial base shape, structural analysis of vertical and horizontal components, integuments and teeth. Intraclass correlations were calculated for concordance evaluation and the comparison between the groups was applied the t student test, Mann-Whitney test and the level of significance was 5%. In the comparison between the groups, significant differences were observed (p <= 0.05), and the group of individuals with Apert syndrome presented lower facial height increase, hourly rotation of the mandible associated with greater inclination of the body and branch of the mandible, decreased cranial base angle, favoring a more vertical position, there was alteration between the posterior and middle portion of the face, however there are not many dental compensations, but the maxilla presented smaller dimensions than the non-syndromic individuals that can favor several alterations dental changes.
Masotti, Cibele. "\"Estudo de mecanismos regulatórios e mapeamento de genes associados a malformações craniofaciais\"." Universidade de São Paulo, 2007. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-14092007-114619/.
Повний текст джерелаIn the present study, we investigate two craniofacial mendelian disorders, resulting from abnormalities in the development of the first and second pharyngeal arches: the Treacher Collins Syndrome (TCS ) and the auriculo condylar syndrome (ACS). The identification of genes and molecular mechanisms associated to these conditions, in addition to contributing to the understanding of the development of structures derived from these pharyngeal arches, is fundamental for the development of molecular diagnostics, an important tool for differential diagnosis and genetic counseling. We contributed to a better clinical characterization of ACS with a description of a new family with 11 affected individuals. After excluding four candidate genes/regions for syndromes of the 1st and 2nd pharyngeal arches, we carried out linkage studies using polymorphic markers throughout the genome. We mapped the first locus associated to ACS, 1p21.1-q23.3 (lod score=3.0), and our data suggest genetic heterogeneity exists for this pathology. With respect to the study of TCS , we carried out an extensive review of the nomenclature for the pathogenic mutations described in the literature, in addition to investigating atypical mutation mechanisms in TCS , corroborating the hypothesis that mutations in the exons that undergo alternative splicing can result in the TCS phenotype. We continued the characterization of the mutation spectrum for TCOF1 and we investigated the genotype-phenotype correlation in a sample of 58 patients with TCS . The analysis of polymorphisms in the coding region allowed us to make inferences about the selective regime experienced by TCOF1 , and our results suggested that TCOF1 is under purifying selection, which acts upon weakly deleterious mutations. We also inferred the phase for a set of polymorphisms in the coding region, testing whether there was association between any haplotype and the severity of the phenotype or the susceptibility to the disease. Given the observation of no correlation between haplotype/genotype and phenotype, we tested the hypothesis that variation in the levels of expression of the normal allele could be responsible for the clinical variability observed in TCS patients. To do this, we started a functional study of the TCOF1 regulatory regions, including regions distant from the minimal promoter, predicted to be enhancers. We identified polymorphisms in the promoter region, one of which reduced the levels of transcription and affected the binding of the YY1 transcription factor to the TCOF1 promoter. Using an in vitro assay we characterized YY1 as a repressor. We also tested the hypothesis of haploinsufficiency as a mechanism associated to TCS . We quantified the levels of TCOF1 transcripts in normal and affected individuals and found a significant difference. Our study corroborates the haploinsufficiency hypothesis and for the first time shows that patients have transcript degradation. We also investigated the possibility that transcripts levels are correlated to phenotypic variability. We compared the expression data for each patient with the frequency of nine clinical signs of TCS , but no correlation was found. We investigated the pattern of methylation on the CpG island of TCOF1 in patients and controls, in order to test whether different levels of methylation among individuals were associated to the great variation in gene expression. We demonstrated that methylation of the CpG island is not the regulatory mechanisms underlying the broad variation in TCOF1 expression.
Parizotto, Julianna de Oliveira Lima. "Morfologia craniofacial e da via aérea em indivíduos com Espectro Oculoauriculovertebral /." Araraquara, 2020. http://hdl.handle.net/11449/191898.
Повний текст джерелаResumo: O espectro oculoauriculovertebral (EOAV), também conhecido como Síndrome de Goldenhar, afeta o desenvolvimento de estruturas dos 1º e 2º arcos branquiais que envolvem alterações mandibulares, oculares, vertebrais, auriculares e estruturas extracranianas. A maioria dos estudos sobre o EOAV são relatos clínicos e aqueles com populações significativas são descrições fenotípicas. Os estudos que avaliaram a morfologia tiveram seus resultados limitados ao incluir indivíduos com envolvimento unilateral, bilateral, leve, moderado e grave, na mesma amostra. Dessa forma, os objetivos do presente estudo foram de caracterizar a morfologia craniofacial e da via aérea e suas possíveis correlações em uma amostra homogênea (n = 18) composta apenas por indivíduos com EOAV unilateral grave. A análise da via aérea foi realizada por meio do Software Dolphin Imaging®. Para avaliar a morfologia craniofacial, sete medidas morfométricas foram realizadas com Software Materialize Mimics®. Para comparar as variáveis das vias aéreas e morfométricas, foi utilizado um grupo controle pareado por idade e sexo. Pelo teste de Shapiro-Wilk, observou-se que 13 das 35 variáveis não apresentaram distribuição normal. O teste t de Student foi aplicado para as variáveis de distribuição normal e Mann-Whitney para aquelas sem distribuição normal. Comparando os grupos Controle e OAVS para medidas craniofaciais, 16 das 26 variáveis foram estatisticamente significantes e, para as medidas das vias aéreas, todas foram esta... (Resumo completo, clicar acesso eletrônico abaixo)
Abstract: The Oculoauriculovertebral spectrum (OAVS), also known as Goldenhar Syndrome, affects the development of structures of the 1st and 2nd branchial arches that involve mandibular, ocular, vertebral, auricular changes, as well as extracranial structures. Most OAVS studies are clinical reports, and those with significant populations are phenotypic description. Studies that evaluated morphology had their results limited by including individuals with unilateral, bilateral, mild, moderate and severe involvement in the same sample. The objectives of this study were to characterize the craniofacial and airway morphology and its possible correlations in a homogeneous sample (n = 18) composed only of unilateral severe OAVS individuals. Airway analysis was performed using Dolphin Imaging® software. To evaluate craniofacial morphology, seven morphometric measurements were performed by Materialize Mimics® Software. To compare airway and morphometric variables, a control group matched by age and sex was used. Through the Shapiro-Wilk test, it was observed that 13 of the 35 variables did not have normal distribution. Student's t-test was applied for the normal distribution variables and Mann-Whitney for those without normal distribution. Comparing the Control and OAVS groups for craniofacial measurements, 16 of the 26 variables were statistically significant, and for airway measurements all were statistically significant except for the RG Area variable. Pearson and Spearman's correlation coef... (Complete abstract click electronic access below)
Mestre
Mageet, Adil Osman. "The relationship between the severity of obstructive sleep apnoea hypopnoea syndrome and the craniofacial morphology in adults." Thesis, University of Edinburgh, 2008. http://hdl.handle.net/1842/24882.
Повний текст джерелаFinck, Nathalia Silveira. "Características craniofaciais, posturais, articulares e respiratórias e sintomas de distúrbios respiratórios do sono em escolares na faixa etária de 7 a 14 anos." Universidade Federal do Espírito Santo, 2013. http://repositorio.ufes.br/handle/10/5869.
Повний текст джерелаCoordenação de Aperfeiçoamento de Pessoal de Nível Superior
O objetivo dessa dissertação foi investigar as alterações temporomandibulares, craniofaciais e posturais associadas à respiração bucal, além de avaliar a relação entre sinais clínicos e sintomas de distúrbios respiratórios do sono (DRS) em escolares respiradores bucais, na faixa etária de 7 a 14 anos. Trata-se de um estudo caso-controle, com amostra de 147 escolares, sendo 73 com respiração bucal (RB) e 74 com respiração nasal (RN), avaliados através de anamnese, exame clínico e testes respiratórios. Os escolares diagnosticados como respiradores bucais responderam a um questionário sobre a autopercepção de sintomas de DRS na infância, com foco em problemas do sistema mastigatório, nasais e do sono. A presença de respiração bucal foi estatisticamente significativa para as seguintes alterações: ausência de selamento labial (OR= 29.70); desvio durante abertura da boca (OR= 24.63); palato atrésico (OR= 5.07); assimetria facial (OR= 5.06); índice de Mallampati III e IV (OR= 2.85); má oclusão Classe II (OR=2.67); hipertrofia de conchas nasais (OR= 2.19). Não houve diferença significativa entre os grupos para as alterações posturais. Nos escolares RB, problemas na ATM e acordar com dor de cabeça foram associados à má oclusão Classe II e à falta de selamento labial. Dor na nuca e torcicolo foram associados à sobremordida alterada e à anteriorização da cabeça. Problemas com o sono, sonolência diurna, acordar à noite, roncar e dormir de boca aberta foram associados à hipertrofia das tonsilas palatinas e ao índice de Mallampati obstrutivo. A chance de alterações temporomandibulares e craniofaciais ocorrerem em escolares com padrão de respiração bucal foi elevada. O aparecimento de sintomas de DRS na infância parece estar associado à persistência da respiração bucal e suas consequentes alterações craniofaciais, oclusais, posturais e nas vias aéreas superiores
The aim of this study was to investigate the temporomandibular, craniofacial and postural changes associated with mouth breathing and also evaluate the relationship between clinical signs and SDB symptoms in children 7 to 14 years of age. A case-control study with a sample of 147 children, 73 mouth breathers (MB) and 74 nasal breathers (NB), were evaluated by anamnesis, clinical examination and respiratory tests. The schoolchildren diagnosed as MB answered a questionnaire on self-perceived symptoms of SDB, focusing on the masticatory system, nasal and sleep problems. The presence of mouth breathing was statistically significant with the following changes: a lack of lip seal (OR=29.70), a deviation during the opening of the mouth (OR=24.63), an atresic palate (OR=5.07), a facial asymmetry (OR=5.06), an obstructive Mallampati scores (OR=2.85), a Class II malocclusion (OR=2.67) and a turbinate hypertrophy (OR=2.19). No significant difference in postural pattern was found between groups. In the MB group, TMJ problems and wake up with headache were associated with a Class II malocclusion and a lack of lip seal. Stiff neck or neck pain were associated with an altered overbite and a forward head position. Sleep problems, daytime sleepiness, waking at night, snoring and sleeping with the mouth open were associated with a tonsillar hypertrophy and obstructive Mallampati scores. The chances of occurrence of temporomandibular and craniofacial changes were high in the MB schoolchildren. The emergence of the SDB symptoms in childhood appears to be associated with the persistency of the mouth breathing and their consequent craniofacial, occlusal, postural and upper airway s abnormalities
Leslie, Elizabeth Jane. "Advances in understanding the genetic architecture of cleft lip and palate disorders." Diss., University of Iowa, 2012. https://ir.uiowa.edu/etd/3489.
Повний текст джерелаSoares, Manoela Maria Pereira. "Avaliação da influência da gravidade da SAOS nas alterações craniofaciais no posicionamento do hioide." Universidade de São Paulo, 2015. http://www.teses.usp.br/teses/disponiveis/17/17151/tde-20072016-141707/.
Повний текст джерелаObjective: The study evaluated cephalometric children aged 7-10 years between the different strata of OSA and control groups, with the skeletal and facial changes and the position of the hyoid bone. Casuistic and Method: This study included 76 children, aged between 7 and 10 years in mixed dentition phase, with no history of orthodontic treatment, speech therapy or surgical otorhinolaryngological. All children were submitted to otorhinolaryngological examination and polysomnography in a sleep laboratory, as well as holding the cephalometric examination. The participants were then divided into groups according to the severity of OSA. Of the 76 children of research, 14 constitute the control group; 62 children are affected of OSAS, 46 classified as mild OSA and 16 moderate or severe OSA. All children underwent lateral cephalometric, to obtain craniofacial linear measurements and specific measurements of the hyoid bone. The measurements were compared to each other within the different groups by Student\'s t-test (Welch correlation) and correlated with the OAHI value of the patient through the Pearson correlation test. The level of significance was set at p<0.05. Results: There was a greater distance from the hyoid bone to the mandibular plane in the OSA group when compared to control (p = 0.03). Between the two subgroups of OSAS, patients with moderate or severe impairment had significant lower horizontal distance between the hyoid and the posterior pharyngeal wall (p=0.03) when compared to patients with mild OSA. The correlation between the cephalometric and OAHI measures, these same two measures had a significant relationship with the positive correlation to distance from the hyoid to the mandibular plane (p=0.04) and negative for the horizontal distance from the hyoid to the throat (p=0.006). For facial cephalometric variables, there was no significant difference between groups. Conclusion: The position of the hyoid bone in children 7-10 years was characterized by inferiority in children with the disease and posteriorization in patients with more gravity of OSA. For craniofacial linear measurements showed no statistical difference
Berenguer, Marie. "Identification de gènes impliqués dans le Syndrome de Goldenhar ou Spectre Oculo-Auriculo-Vertébral." Thesis, Bordeaux, 2016. http://www.theses.fr/2016BORD0326.
Повний текст джерелаGoldenhar syndrome or Oculo-Auriculo-Vertebral Spectrum (OAVS) is a rare developmental disorder involving the first and the second pharyngeal arches. Extremely heterogeneous, it is characterized by hemifacial microsomia, asymmetric ears, ocular and vertebral abnormalities. Various etiologies have been suggested including environmental factors, especially embryonic Retinoic Acid (RA) exposure during pregnancy, and genetic causes (various chromosomal abnormalities). However, no gene had been formally implicated in this syndrome so far. The goal of this project is to identify genes involved in OAVS. Novel pangenomic approaches by Next generation Sequencing (Whole Exome Sequencing and Target genes Panel) were used to find new candidate genes. Identification of mutations in MYT1 and the transient knockdown experiments in zebrafish confirmed its implication in OAVS. Our in vitro studies provided functional characterization of these mutations and supported the link between MYT1 and RA signaling pathway. Thus, MYT1 is a target of RA but also acts as a repressor of RA Receptors and so, participates at the negative feedback. Toxicological approach was also performed by treatment of gestational mice by all-trans RA during a critical window of embryonic development. It led to a deregulation of proteins and to a modulation of cellular pathways in treated embryos. Studying the proteins whose expression is altered following the treatment, especially the proteins already involved in craniofacial development, could led to the identification of new candidate genes for OAVS and thus, may allow to better decipher the pathogenic mechanisms
Maschtakow, Patrícia Superbi Lemos [UNESP]. "Estudo comparativo em radiografias cefalométricas laterais das alterações craniofaciais em indivíduos portadores de síndrome de Down e em portadores da síndrome da apnéia obstrutiva do sono." Universidade Estadual Paulista (UNESP), 2009. http://hdl.handle.net/11449/98012.
Повний текст джерелаCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
A síndrome da apnéia e hipopnéia obstrutiva do sono (SAHOS) caracteriza-se pela obstrução completa ou parcial das vias aéreas superiores durante o sono sendo comum em indivíduos portadores de Síndrome de Down (SD). O objetivo neste estudo é comparar, por meio da análise em radiografias cefalométricas, em norma lateral, características anatômicas craniofaciais associadas às vias aéreas superiores entre indivíduos portadores de SD, indivíduos portadores de SAHOS e indivíduos não sindrômicos e sem alterações craniofaciais. Além disso, verificar a existência de dimorfismo sexual em relação a essas características nos grupos estudados. Foram realizadas análises computadorizadas em 43 radiografias cefalométricas laterais de indivíduos portadores de SD com idades entre 18 e 34 anos, 26 de indivíduos portadores da SAHOS com idades entre 20 e 70 anos e 29 radiografias cefalométricas de indivíduos não portadores de SD e sem características clínicas de SAHOS com idades entre 18 e 35 anos. Foram avaliadas 14 medidas lineares por meio do software Radiocef Studio 2. Os dados obtidos foram comparados e submetidos à análise de variância (ANOVA) e teste post-hoc de Tukey. Concluimos que existem alterações craniofaciais significantes entre indivíduos portadores de SAHOS e indivíduos não sindrômicos tais como: menor comprimento maxilar e mandibular, naso, oro e hipofaringe com dimensões reduzidas, maior comprimento do palato mole, espaço retropalatal estreitado e osso hióide posicionado mais inferior e anteriormentemente. Dentre as alterações relacionadas à SAHOS, foram encontrados nos indivíduos portadores de SD, menor comprimento da base do crânio, menor comprimento maxilar e mandibular, naso e hipofaringe reduzidas, palato mole aumentado, espaço retropalatal reduzido e osso hióide posicionado mais inferior e anteriormentemente...
Obstructive sleep apnea syndrome is characterized by complete or partial obstruction of the upper airway during sleep, being common in individuals with Down syndrome. The aim of this study is to compare, through analysis of cephalometric radiographs in lateral norm, craniofacial morphology associated with upper airway between individuals with Down syndrome, individuals with obstructive sleep apnea syndrome and non syndromic individuals. Moreover, verify if there is sexual dimorphism in relation to changes in these groups. Computer analysis were performed in 43 lateral cephalometric radiographs of individuals with Down syndrome aged between 18 and 34 years, 26 patients of obstructive sleep apnea syndrome with ages between 20 and 70 years and 29 cephalometric radiographs of non syndromic individuals aged 18 and 35 years old. The analyses were performed using the software Radiocef Studio 2. The data were compared and submitted to analysis of variance (ANOVA) and post-hoc test of Tukey. It was concluded that there are significant craniofacial changes between individuals with and without obstructive sleep apnea syndrome on the lower maxillar and mandibular length, naso, oro and hypopharynx with reduced dimensions, increased length of the soft palate, post-palatal region closer, inferiorly and anteriorly positioned hyoid bone. Among the changes related to obstructive sleep apnea syndrome, that were found in individuals with Down syndrome, the lower length of the base of the skull, lower jaw and mandibular length, reduced nasal and hypo pharynx, longer soft palate, post-palatal region reduced and inferiorly and anteriorly positioned hyoid bone. There is also sexual dimorphism in some factors analyzed: larger anterior skull base, greater length of the maxilla and mandible were found in males in all groups.
Maschtakow, Patrícia Superbi Lemos. "Estudo comparativo em radiografias cefalométricas laterais das alterações craniofaciais em indivíduos portadores de síndrome de Down e em portadores da síndrome da apnéia obstrutiva do sono /." São José dos Campos : [s.n.], 2009. http://hdl.handle.net/11449/98012.
Повний текст джерелаAbstract: Obstructive sleep apnea syndrome is characterized by complete or partial obstruction of the upper airway during sleep, being common in individuals with Down syndrome. The aim of this study is to compare, through analysis of cephalometric radiographs in lateral norm, craniofacial morphology associated with upper airway between individuals with Down syndrome, individuals with obstructive sleep apnea syndrome and non syndromic individuals. Moreover, verify if there is sexual dimorphism in relation to changes in these groups. Computer analysis were performed in 43 lateral cephalometric radiographs of individuals with Down syndrome aged between 18 and 34 years, 26 patients of obstructive sleep apnea syndrome with ages between 20 and 70 years and 29 cephalometric radiographs of non syndromic individuals aged 18 and 35 years old. The analyses were performed using the software Radiocef Studio 2. The data were compared and submitted to analysis of variance (ANOVA) and post-hoc test of Tukey. It was concluded that there are significant craniofacial changes between individuals with and without obstructive sleep apnea syndrome on the lower maxillar and mandibular length, naso, oro and hypopharynx with reduced dimensions, increased length of the soft palate, post-palatal region closer, inferiorly and anteriorly positioned hyoid bone. Among the changes related to obstructive sleep apnea syndrome, that were found in individuals with Down syndrome, the lower length of the base of the skull, lower jaw and mandibular length, reduced nasal and hypo pharynx, longer soft palate, post-palatal region reduced and inferiorly and anteriorly positioned hyoid bone. There is also sexual dimorphism in some factors analyzed: larger anterior skull base, greater length of the maxilla and mandible were found in males in all groups.
Orientador: Luiz Cesar de Moraes
Coorientador: João Carlos da Rocha
Banca: Jefferson Luis Oshiro Tanaka
Banca: Edmundo Medici Filho
Mestre
Faria, Maria Estela Justamante de. "Avaliação do crescimento craniofacial e das extremidades de pacientes com deficiência de hormônio de crescimento ou síndrome de Turner em tratamento prolongado com hormônio de crescimento." Universidade de São Paulo, 2007. http://www.teses.usp.br/teses/disponiveis/5/5135/tde-24102007-112651/.
Повний текст джерелаINTRODUCTION: Patients with GH deficiency and Turner syndrome, associated to short stature can benefit from GH treatment. There are controversies on the deleterious effect of GH on craniofacial growth; however, most of the studies are retrospective. Our objective was to carry out a prospective study to evaluate the craniofacial growth of patients in treatment with GH and the possible development of acromegalic features. PATIENTS: 30 patients with chronological age of 4.6 to 23 years and bone age of 1.5 to 13 years divided in 3 groups based on the diagnosis and GH use: group 1- patients with hypopituitarism and isolated GH deficiency naïve to GH treatment (n=6); group 2: patients with hypopituitarism and isolated GH deficiency (n=16) and group 3: patients with Turner syndrome, both already on GH treatment (n=8). GH treatment (0.1 to 0.15 U/kg/day, subcutaneously) was carried out at the night for 2 to 11 years. METHODS: Anthropometrical (height, hands and feet) measurements, panoramic x-ray, teleradiography followed by cephalometric analysis according to Ricketts and linear measurements of the skull base, facial height, lower third of the face, lower jaw and maxilla, and frontal and profile analysis of face by photography were made annually, for at least 3 years. The mentioned linear measurements were compared with the average Brazilian population and among themselves to evaluate the individual craniofacial development. The hand and foot size measurements were compared with a morphometric atlas and were considered increased when >P97. The levels of IGF1 and IGFBP3 were measured each 6 months for GH dose adequacy. The results were analyzed statistically and p values < 0.05 were considered statistically significant. RESULTS: Group 1 and 2 with isolated GH deficiency or hypopituitarism: 3 patients with disharmonious profile attained harmony, 2 due to the mandibular growth and 1 patient due to maxillary growth; no patient developed facial disharmony; we observed a significant increase of the posterior skull base, inferior jaw and lower third of the face (P<0.05). Group 3 with Turner syndrome: 2 patients with facial disharmony obtained harmony due to the mandibular growth and no patient developed facial disharmony. All of the patients maintained the same pattern of facial growth when the initial and final cephalometric analyses according to Ricketts were compared. Hand size increase was observed in 2 patients (1 with GH deficiency and another with Turner syndrome); foot size increase was observed in 50% of the patients with Turner syndrome and in 32% of the patients with GH deficiency. CONCLUSIONS: The comparison of the cephalometric measurements of the group with GH deficiency naïve to GH treatment, demonstrated a greater GH effect on the growth of the posterior skull base and jaw; all of the patients had kept the same craniofacial growth pattern during the follow-up; there was no statistically significant correlation between the cephalometric measurements and facial harmony; therefore, the association of the methods of cephalometric and facial analysis through photography is mandatory to evaluate the effect of GH on craniofacial growth. There was an improvement in the facial harmony in 28% of the retrognathic patients due to mandibular growth; therefore, patients with mandibular retrognathism can benefit from GH treatment. None of the patients treated with standardized doses of GH developed facial disharmony during treatment. We observed however, an increase of the extremities, mainly of the feet.
Li, Lin. "Characterization of the TCOF1 Gene Using a Neuroblastoma Cell Line and a Mouse Model." Abstract, 24-page preview and downloadable full-text (PDF format) available to VCU users at:, 2006. http://proquest.umi.com/pqdweb?index=0&did=1192182461&SrchMode=1&sid=2&Fmt=2&VInst=PROD&VType=PQD&RQT=309&VName=PQD&TS=1179415484&clientId=4305.
Повний текст джерелаRibeiro, Raquel Costa. "Anomalias congénitas e manifestações orais." Master's thesis, [s.n.], 2014. http://hdl.handle.net/10284/4395.
Повний текст джерелаIntrodução: As anomalias congénitas abrangem alterações de estrutura, função e metabolismo da criança. Resultantes de alterações físicas e /ou mentais, podendo estar presentes logo no nascimento ou manifestar-se mais tardiamente. Estima-se que 7,6 milhões de crianças ao nascimento sejam portadoras de uma anomalia congénita. Qualquer alteração no desenvolvimento embrionário pode originar anomalias congénitas que podem variar desde pequenas assimetrias até defeitos com maiores comprometimentos estéticos e funcionais. Objetivo: O objetivo do presente trabalho é dar a conhecer a existência de algumas anomalias congénitas com grande envolvimento da cavidade oral provocando más oclusões devido a erupções dentárias alteradas e alterações no crescimento dos ossos da face. Algumas dessas anomalias são: Fenda Lábio-Palatina, Disostose Cleidocraniana, Disostose Craniofacial entre outras. Materiais e Métodos: Pesquisou-se em duas bases de dados a literatura relevante quanto à temática proposta, com limite temporal dos últimos dez anos e com as seguintes palavras-chaves: anomalias congénitas com manifestações orais, fenda Lábiopalatina, Disostose Cleidocraniana, Disostose Crâniofacial, Disostose Mandíbulo- Facial, Torcicolo, Sífilis Congénita, Toxoplasmose Congénita, Paralisia Cerebral, Síndrome Incontinência Pigmentar, Paralisia Facial, Displasia Ectodérmica, Síndrome de Rieger, Síndrome de Pierre-Robin, Síndrome de Hallerman-Streiff. Os artigos foram selecionados segundo o seu rigor científico e interesse para o tema. Conclusões: A etiologia das anomalias congénitas é multifatorial sendo idêntica em quase todas as anomalias. As anomalias craniofaciais têm um número significativo dentro das anomalias congénitas sendo por isso muito diversificadas e complexas. A fenda Lábio-palatina é das anomalias craniofaciais mais frequente e conclui-se que as manifestações orais são idênticas em cada anomalia congénita estudada. Introduction: Congenital anomalies include changes in structure, function and metabolism of the child. Resulting from physical and / or mental abnormalities that can be presented at birth or may manifest themselves later. It is estimated that 7.6 million children are born with a congenital anomaly. Any change in embryonic development can cause birth defects which may vary from small asymmetries to defects with higher aesthetic and functional impairment. Objective: This work intends to shed some light on the existence of some congenital anomalies with great involvement on the oral cavity causing malocclusion due to altered dental eruptions and changes in facial bones' growth. Some of these anomalies are: Cleft Lip and Palate, cleidocranial dysostosis, Craniofacial dysostosis among others. Materials and Methods: Two databases on relevant literature regarding the proposed theme were searched. The search time span was comprised in the last ten years and keywords like congenital anomalies with oral manifestations, cleft lip and palate, cleidocranial dysostosis, craniofacial dysostosis, mandibular-facial dysostosis, Torticollis, Congenital Syphilis, Congenital Toxoplasmosis, Cerebral Palsy, Incontinence Pigmentosa Syndrome, Facial Paralysis, Ectodermal Dysplasia, Rieger Syndrome, Pierre -Robin syndrome, Hallerman-Streiff were used. Articles were selected according to their scientific rigor and relevance to the theme. Conclusions: The etiology of congenital abnormalities is multifactorial, being identical in almost all anomalies. Craniofacial anomalies are predominant within congenital anomalies, being diverse and complex. The cleft lip and palate are the most common craniofacial anomalies. Thus, it was concluded that oral manifestations are identical in each study congenital anomaly.
Sharma, Vikram Pramod. "Genetics and pathophysiology of coronal craniosynostosis revealed by next-generation DNA sequencing." Thesis, University of Oxford, 2015. http://ora.ox.ac.uk/objects/uuid:cf124e89-aa52-4d76-ac0f-83208afa4b3a.
Повний текст джерелаBreik, Omar. "Mandibular distraction osteogenesis in the management of airway obstruction in children with micrognathia: a systematic review." Thesis, 2015. http://hdl.handle.net/2440/97968.
Повний текст джерелаThesis (M.Clin.Sc.) -- University of Adelaide, School of Translational Health Science, 2015
Murdoch-Kinch, Carol Anne. "Cephalometric analysis of families with dominantly inherited Crouzon syndrome a genotype/phenotype correlation study to establish and redefine the concept of incomplete penetrance /." 1996. http://catalog.hathitrust.org/api/volumes/oclc/48072875.html.
Повний текст джерелаTumbleson, Danika M. "Treatment and genetic analysis of craniofacial deficits associated with down syndrome." Thesis, 2014. http://hdl.handle.net/1805/6432.
Повний текст джерелаDown syndrome (DS) is caused by trisomy of human chromosome 21 (Hsa21) and occurs in ~1 of every 700 live births. Individuals with DS present craniofacial abnormalities, specifically an undersized, dysmorphic mandible which may lead to difficulty with eating, breathing, and speech. Using the Ts65Dn DS mouse model, which mirrors these phenotypes and contains three copies of ~50% Hsa21 homologues, our lab has traced the mandibular deficit to a neural crest cell (NCC) deficiency in the first pharyngeal arch (PA1 or mandibular precursor) at embryonic day 9.5 (E9.5). At E9.5, the PA1 is reduced in size and contains fewer cells due to fewer NCC populating the PA1 from the neural tube (NT) as well as reduced cellular proliferation in the PA1. We hypothesize that both the deficits in NCC migration and proliferation may cause the reduction in size of the PA1. To identify potential genetic mechanisms responsible for trisomic PA1 deficits, we generated RNA-sequence (RNA-seq) data from euploid and trisomic E9.25 NT and E9.5 PA1 (time points occurring before and after observed deficits) using a next-generation sequencing platform. Analysis of RNA-seq data revealed differential trisomic expression of 53 genes from E9.25 NT and 364 genes from E9.5 PA1, five of which are present in three copies in Ts65Dn. We also further analyzed the data to find that fewer alternative splicing events occur in trisomic tissues compared to euploid tissues and in PA1 tissue compared to NT tissue. In a subsequent study, to test gene-specific treatments to rescue PA1 deficits, we targeted Dyrk1A, an overexpressed DS candidate gene implicated in many DS phenotypes and predicted to cause the NCC and PA1 deficiencies. We hypothesize that treatment of pregnant Ts65Dn mothers with Epigallocatechin gallate (EGCG), a known Dyrk1A inhibitor, will correct NCC deficits and rescue the undersized PA1 in trisomic E9.5 embryos. To test our hypothesis, we treated pregnant Ts65Dn mothers with EGCG from either gestational day 7 (G7) to G8 or G0 to G9.5. Our study found an increase in PA1 volume and NCC number in trisomic E9.5 embryos after treatment on G7 and G8, but observed no significant improvements in NCC deficits following G0-G9.5 treatment. We also observed a developmental delay of embryos from trisomic mothers treated with EGCG from G0-G9.5. Together, these data show that timing and sufficient dosage of EGCG treatment is most effective during the developmental window the few days before NCC deficits arise, during G7 and G8, and may be ineffective or harmful when administered at earlier developmental time points. Together, the findings of both studies offer a better understanding of potential mechanisms altered by trisomy as well as preclinical evidence for EGCG as a potential prenatal therapy for craniofacial disorders linked to DS.
Hui, Ivy Tai Chiew, and 戴楸霏. "Treatment Outcome and Stability of Forward Craniofacial Distraction in Syndromic Craniosynostosis." Thesis, 2010. http://ndltd.ncl.edu.tw/handle/97946362174323247958.
Повний текст джерела長庚大學
顱顏口腔醫學研究所
98
Purpose: The purpose of the study is to investigate the treatment effect and stability of patients with syndromic craniosynostosis (SCS). Design: Serial case study. Setting: Consecutive patients with SCS who were treated by DO in Chang Gung Craniofacial Center, Taipei, Taiwan from 1988 to 2003. Patients and intervention: A total of 8 patients of SCS with average age of 9.2 year at the time of surgery were included. Five patients recieved Monobloc DO and three received Le Fort III DO. Methods of Measurements: Clinical charts were reviewed, serial cephalometric radiographs were superimposed and measured to evaluate the treatment and post-treatment changes. The three-dimensional computerized tomographs (3D CT) were used to observe the alteration of intracranial volumn, orbital protrusion and upper airway space. The mean follow up period was 2 years. Results: The midface complex moved forward by 15 mm in average with counterclockwise rotation . The midface had no further sagittal forward growth after DO. The supraorbital region showed forward expansion in cases with Monobloc DO. The 3D CT revealed an increase of intracranial and upper airway volume, and decrease of eye globe protrusion. Conclusion: DO is an effective treatment for patients with SCS. The midface demonstrated mild vertical growth but no sagittal growth after DO. The frontal bone remodeling continued after Monobloc DO. The potential of solving vital problems, such as increase ICP, proptosis and airway obstruction was achieved.
Billingsley, Cherie Nicole. "Developmental Differences and Altered Gene Expression in the Ts65Dn Mouse Model of Down Syndrome." 2012. http://hdl.handle.net/1805/2776.
Повний текст джерелаTrisomy 21 occurs in approximately 1 out of 750 live births and causes brachycephaly, a small oral cavity, a shortened mid-face, and mental impairments in individuals with Down syndrome (DS). Craniofacial dysmorphology occurs in essentially all individuals with trisomy 21 and causes functional difficulties. Mouse models are commonly used to study the etiology of human disorders because of the conserved phenotypes between species. The Ts65Dn Down syndrome mouse model has triplicated homologues for approximately half the genes on human chromosome 21 and exhibits many phenotypes that parallel those found in individuals with DS. Specifically, newborn and adult Ts65Dn mice display similar craniofacial defects as humans with DS. Ts65Dn embryos also exhibit smaller mandibular precursors than their euploid littermates at embryonic day 9.5 (E9.5). Furthermore, Ts65Dn mice exhibit reduced birth weight which suggests a possible generalized delay in overall embryonic growth. Based on previous research at E9.5, it was hypothesized that Ts65Dn E13.5 embryos would have reduced mandibular precursors with altered gene expression. It was also hypothesized that other neural crest derived structures would be reduced in trisomic embryos. Using morphological measurements it was determined that the mandible, Meckel’s cartilage, and hyoid cartilage were significantly reduced in E13.5 trisomic embryos. The tongue was of similar size in trisomic and euploid embryos while cardiac and brain tissue volumes were not significantly different between genotypes. Analysis of total embryonic size at E9.5 and E13.5 revealed smaller trisomic embryos with developmental attenuation that was not related to maternal trisomy. A microarray analysis performed on the mandibular precursor revealed 155 differentially expressed non-trisomic genes. Sox9 was of particular interest for its role in cartilage condensation and endochondral ossification. It was hypothesized that the overexpression of Sox9 in the developing mandible would be localized to Meckel’s and hyoid cartilages. Immunohistochemistry performed on the mandibular precursor confirmed an overexpression of Sox9 in both Meckel’s and the hyoid cartilages. This research provides further insight into the development of trisomic tissues, both neural crest and non-neural crest-derived, and also the specific molecular mechanisms that negatively affect mandibular development in Ts65Dn mice and presumably individuals with Down syndrome.
Semedo, Ana Sofia Coimbra. "Síndrome de apneia obstrutiva do sono e desenvolvimento craniofacial." Master's thesis, 2021. http://hdl.handle.net/10316/98338.
Повний текст джерелаA síndrome de apneia obstrutiva do sono (SAOS) é definida pela obstrução das vias aéreas superiores, com repercussões na ventilação pulmonar durante o sono. Com uma prevalência de até 5% na população pediátrica, esta implica a sobreutilização dos cuidados de saúde e constitui uma causa de morbilidade na infância. Neste grupo etário, a etiologia mais frequente é a hipertrofia das tonsilas palatinas e/ou faríngeas. A sintomatologia é pouco específica, sendo a roncopatia a manifestação mais frequente. No entanto, tem impacto na qualidade de vida da criança, com possíveis consequências futuras. Existe evidência de causalidade entre a SAOS e determinadas alterações craniofaciais, mas este tópico ainda é alvo de controvérsia. O desenvolvimento craniofacial é um fenómeno complexo, provavelmente influenciado por fatores genéticos e adquiridos. O objetivo desta revisão sistemática é avaliar a existência de anomalias do desenvolvimento craniofacial em crianças diagnosticadas com SAOS, comparando-as com crianças sem SAOS. O estudo deste tema permitirá uma melhor prestação de cuidados, com tratamento mais precoce e melhor prognóstico. A pesquisa bibliográfica recorreu às bases de dados eletrónicas PubMed e EMBASE. Os critérios de inclusão foram: (1) artigos publicados entre 2010 e a data da pesquisa bibliográfica; (2) estudos randomizados e controlados, estudos de caso-controlo, estudos de coorte e revisões sistemáticas; (3) participantes em idade pediátrica; (4) estudo da correlação da SAOS com o desenvolvimento craniofacial; (5) SAOS diagnosticada por anamnese, questionários, exame físico e/ou polissonografia (PSG); (6) avaliação craniofacial clínica ou por cefalometria.A colheita de dados abrangeu: (1) características sociodemográficas da população em estudo (idade, sexo e raça); (2) características clínicas (diagnóstico, sintomatologia, escalas de avaliação e exame físico); (3) dados da PSG; (4) dados cefalométricos. A presente revisão incluiu 9 artigos. A intervenção foi o diagnóstico de SAOS, realizado por métodos válidos, em todos os artigos. Para a análise craniofacial, todos os autores recorreram a radiografia cefalométrica, associando ou não um exame clínico. A análise incluiu 13 variáveis, divididas pelos planos ântero-posterior/sagital, vertical e transversal. Os resultados foram alvo de uma interpretação sistematizada e qualitativa. As alterações na estrutura craniofacial em crianças com SAOS foram mais acentuadas a nível do retrognatismo mandibular, padrão de crescimento vertical, arcadas mandibulares estreitas e presença de mordida cruzada. As alterações sagitais da base do crânio foram as menos significativas. Nas limitações, destaca-se a heterogeneidade entre estudos e alguns potenciais fatores confundidores, tais como a idade, sexo, raça e gravidade da patologia. Apesar das limitações e falta de evidência estatística em alguns casos, verificamos certas tendências no desenvolvimento, com possível impacto na qualidade de vida destes doentes, a nível clínico. Em conclusão, não obtivemos uma relação causal entre a SAOS e as alterações craniofaciais. No entanto, a avaliação craniofacial poderá ser um instrumento adjuvante no diagnóstico. De facto, se um doente apresentar alterações faciais típicas, tais como maloclusão de classe II, fácies alongada e arcadas mandibulares estreitas, deve levantar a suspeita de SAOS e ser referenciado a consulta de Otorrinolaringologia (ORL), para investigação precoce.
Obstructive sleep apnea syndrome (OSAS) is defined by obstruction of the upper airways, with repercussions on pulmonary ventilation during sleep. With a prevalence up to 5% of the paediatric population, it is a common cause of childhood morbidity, and it implicates an overuse of health-related care. In children, the main etiology of OSAS is tonsil and adenoid hypertrophy. The symptoms are nonspecific, and snoring is the most frequent manifestation. However, this disease has an impact on the patients’ quality of life, with future consequences.Evidence suggests that a causal relationship exists, between OSAS and certain craniofacial anomalies. However, this topic remains controversial. Craniofacial development is a complex process. It is probably influenced by both genetic and acquired factors. This systematic review aims to evaluate the presence of craniofacial development anomalies in children diagnosed with OSAS, comparatively to children without OSAS. The study of this topic will improve patient care, with early treatment and better prognosis.Our bibliographic research included PubMed and EMBASE electronic databases. The inclusion criteria were: (1) publications between 2010 and the date of bibliographic research; (2) randomized controlled trials, case-control studies, cohort studies and systematic reviews; (3) participants in paediatric age; (4) study of the correlation between OSAS and craniofacial development; (5) OSAS diagnosed by medical history, questionnaires, physical exam and/or polissonography (PSG); (6) clinical or cephalometric craniofacial evaluation.The data collection included: (1) sociodemographic features of study population (age, sex and race); (2) clinical features (diagnosis, symptoms, evaluation scales and physical examination); (3) PSG data; (4) cephalometric data. This review included 9 articles. The intervention was the diagnosis of OSAS, which was done by valid methods in all articles. The craniofacial evaluation was done with cephalometric radiography and some studies also included a clinical assessment. The results comprised 13 variables, which were divided by three planes: sagittal, vertical and lateral.We performed a systematic and qualitative interpretation of the results. The main differences were found regarding mandibular retrognatia, vertical growth pattern, narrow jaws and crossbite. The sagittal cranial base measures revealed the least differences between groups.Our study revealed some limitations. We highlight the heterogeneity between studies and some cofounding factors, namely the participants’ age, sex, race and disease severity. Despite the limitations and lack of statistic evidence of some results, we found a tendency to a certain growth pattern. This pattern may have clinical impact on the patients’ quality of life. In conclusion, we did not find a causal relationship between OSAS and craniofacial development. However, the craniofacial evaluation can be useful as an adjuvant tool on the diagnosis of OSAS. In fact, if a patient presents typical facial features (class II maloclusion, long face and narrow jaws) it should be a red flag for OSAS. Therefore, this patient should be referred to an Otolaryngologist (ENT) consult for early evaluation.
Kragtorp, Katherine A. "Apoptosis and craniofacial dysmorphology in fetal alcohol syndrome : genetic modulation and a contribution of calcium signaling /." 2003. http://www.library.wisc.edu/databases/connect/dissertations.html.
Повний текст джерелаJaafar, Saidi Bin. "Investigation of the role of the X-linked opitz syndrome gene, MID1, in craniofacial development / Saidi Jaafar." 2005. http://hdl.handle.net/2440/22272.
Повний текст джерелаBibliography: leaves 113-122.
[12], 122 leaves : ill. (some col.), plates (some col.) ; 30 cm.
Title page, contents and abstract only. The complete thesis in print form is available from the University Library.
Thesis (Ph.D.)--University of Adelaide, Dental School and School of Molecular and Biomedical Science, Discipline of Physiology, 2005
Jaafar, Saidi Bin. "Investigation of the role of the X-linked opitz syndrome gene, MID1, in craniofacial development / Saidi Jaafar." Thesis, 2005. http://hdl.handle.net/2440/22272.
Повний текст джерелаBibliography: leaves 113-122.
[12], 122 leaves : ill. (some col.), plates (some col.) ; 30 cm.
Thesis (Ph.D.)--University of Adelaide, Dental School and School of Molecular and Biomedical Science, Discipline of Physiology, 2005
Mesquita, Maria Eduarda de. "Craniossinostoses: Síndrome de Apert e de Crouzon e suas implicações na medicina dentária." Master's thesis, 2018. http://hdl.handle.net/10284/7112.
Повний текст джерелаThis work aims to emphasize the oral manifestations of the Apert and Crouzon syndromes and to point out important information for the treatment of these patients. A search was made in the databases PubMed, Scielo and BVS-Bireme, with the intention of reviewing the scientific literature on the subject. Among the syndromic craniosynostoses, the most frequent are Apert Syndrome and Crouzon Syndrome, both occur due to mutations in the gene encoding the Fibroblast Growth Factor receptor, this results in an early closure of the cranial sutures, which can cause an intracranial hypertension. The treatment of these patients must be performed in an inter and multidisciplinary order, and early diagnosis is extremely important to improve the quality of life of these patients and their families.
Marmentini, Rosecler Catuzzo. "An evaluation of the relationship of antegonial notch and gonial angle to different craniofacial measurements in long face syndrome individuals." 1999. http://catalog.hathitrust.org/api/volumes/oclc/48164166.html.
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