As anomalias craniofaciais ocasionam comprometimentos estéticos e funcionais com grande impacto na saúde e na integração social da criança, com interferência no desenvolvimento global e social. Das anomalias craniofaciais este estudo abordou as Fissuras Labiopalatinas (FLP) e o Espectro Óculo Aurículo Vertebral (EOAV). As FLP constituem malformações resultantes de falta do fechamento completo dos tecidos que compõe o lábio e o palato. O EOAV, também conhecido como Síndrome de Goldenhar, é uma anomalia congênita de etiologia desconhecida, com manifestação genética variável e de causa bastante heterogênea. Conhecer as habilidades funcionais e o impacto destas no desenvolvimento global de crianças com EOAV e FLP pode otimizar o desenvolvimento de programas de prevenção e intervenção para promover a saúde e a integração social destes indivíduos. Este estudo foi delineado com objetivo de verificar e comparar o desempenho em habilidades funcionais quanto ao desempenho nas áreas de autocuidado, mobilidade, função social e nível de independência entre crianças com EOAV, crianças com FLP e um grupo comparativo, de crianças sem anomalias. O modelo de pesquisa foi observacional descritivo transversal com uma casuística de 39 pais/responsáveis de crianças na faixa etária entre três anos e sete anos e seis meses, de ambos os gêneros. Foram convidados para participar pais/responsáveis de crianças em tratamento no Hospital de Reabilitação de Anomalias Craniofaciais da Universidade e São Paulo (HRAC-USP) os quais foram divididos em três grupos: dois experimentais e um grupo comparativo. O instrumento para coleta dos dados das habilidades funcionais foi o Pediatric Evaluation of Disability Inventory (PEDI), em sua versão adaptada para o português. A avaliação é realizada por meio de entrevista com o cuidador, o qual deve saber informar sobre o desempenho da criança em atividades e tarefas típicas da rotina diária. Os dados foram apresentados por análise descritiva com medidas de tendência central (média aritmética), dispersão (desvio-padrão) e distribuição de frequência, nas variáveis: idades, gênero e nível socioeconômico da família e caracterização da casuística. Para as análises das pontuações bruta e normativa do questionário PEDI no que se refere às habilidades funcionais e a assistência do cuidador nas três áreas de função autocuidado, mobilidade e função social, foi utilizado o teste de variância One Way, e para o teste de normalidade foi utilizado Shapiro Wilk para variável dependente. A análise comparativa foi realizada pelo teste de Kruskal-Wallis, adotando-se o valor de significância de p< 0,05. Os resultados deste estudo na análise comparativa nas habilidades funcionais na mobilidade, houve diferença estatisticamente significante na comparação entre os grupos GC vs GEEOAV, no escore bruto, e entre os grupos GC vs GEEOAV e GC vs GEFLP, no escore normativo.Na assistência do cuidador no autocuidado, houve diferença estatisticamente significante na comparação entre os grupos GC vs GEEOAV, no escore normativo. Na assistência do cuidador na mobilidade, houve diferença estatisticamente significante na comparação entre os grupos GC vs GEEOAV nos escores bruto e normativo.Na assistência do cuidador na função social houve diferença estatisticamente significante na comparação entre os grupos GC vs GEFLP. / Craniofacial 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.

Einen Orbitadefekt mit Verlust des Auges und der filigranen Lidstrukturen kann eine implantatverankerte Silikonepithese im Halt sicher und bei geöffnetem Auge ästhetisch mit gutem Ergebnis abdecken. Bei Lidschluß fällt allerdings die Starrheit der Lider in der Epithese auf. Ziel der Entwicklung war es, das künstliche Oberlid in der Orbitaepithese beweglich zu gestalten und so durch die gewonnene Dynamik ein natürlicheres Aussehen beim Patienten zu erreichen. In der Epithese sollten alle Komponenten integriert sein, um das künstliche Oberlid synchron zum gesunden Auge zu bewegen. Als bewegliches Oberlid erwies sich gegossene Latexmilch als Material am geeignetsten. Dieses Material war elastisch, einfärbbar und konnte den Belastungen der ungefähr 30 unwillkürlichen Lidschlagbewegungen pro Minute standhalten. Das künstliche Oberlid wurde analog dem natürlichen Vorbild des Lidöffners nach dem Prinzip der Zuggurtung über die Augenprothese nach oben hinten gezogen. Als Antrieb wurde ein DC-Mikromotor eingesetzt, der das Oberlid mit Hilfe eines kleinen Polyamidfadens, welcher an der inneren verstärkten Lidkante befestigt war, nach kranial bewegte. Der Faden wurde über eine Kanülenführung auf eine Seilrolle gewickelt. Nachdem sich ein aufgebautes Tischmodell im Test bewährt hatte, wurde eine einbaufähige elektronische Schaltung in SMD-(Surface Mounted Device) Technik entwickelt, die einerseits den Antrieb steuerte und andererseits die zur Synchronisation erforderlichen Muskelpotentiale verarbeitete. Diese zwei doppelseitig bestückten Platinen wurden direkt hinter die individuell aus Glas vom Okularisten hergestellte Augenprothese positioniert. Über fünf integrierte einstellbare Potentiometer konnten die abgeleiteten Muskelsignale für eine verzögerungsfreie Lidbewegnung beim Patienten individuell verändert werden. Die Energiebereitstellung für die Elektronik und den Motor konnte aufgrund der zu niedrigen Nennkapazitäten nicht durch Akkumulatoren erfolgen, sondern wurde durch eine kleine leicht auswechselbare Batterie erreicht, die hochgerechnet Strom für 7 bis 14 Tage lieferte. Da die einzelnen Komponenten nicht frei in der Epithese liegen konnten, wurde als Schutz ein Gehäuse in hartem Acrylatkunststoff konzipiert. Da die Anordnung der Batterie unter oder hinter dem Motor möglich war und auch die Elektronik versetzt zu Batterie und Motor angebracht werden konnte, konnte so die Geometrie des Gehäuses in Grenzen dem individuellen Orbitadefekt angepaßt werden. In klinischen Versuchen an gesunden Probanden und Patienten mit implantatverankerten Orbitaepithesen zeigte sich, daß Muskelpotentiale vom M. orbicularis oculi aus dem gesunden Oberlid oder teilweise der exenterierten Orbita mit Restaktivität des Lidschließers mit Nadelelektroden bipolar abgeleitet zur Ansteuerung des Motors geeignet waren. Mit diesen Biopotentialen wurde das reibungslose Funktionieren der synchronen Lidbewegung des Prototypen an einer freiwilligen gesunden Versuchsperson getestet. Nach umfangreichen Labortestungen wurden zwei Patienten mit dieser neuartigen Orbitaepithese rehabilitiert. Bei den Patienten wurde das passende Gehäuse mit den gekapselten Funktionseinheiten individuell hergestellt und dieses in eine Silikonepithese eingearbeitet. Gehalten wurde die Silikonepithese über implantatfixierte Magnetabutments. Die Muskelpotentialableitung zur Triggerung der synchronen Lidbewegung erfolgte durch eine intramuskuläre EMG - Ableitung des M. orbicularis oculi. Beim ersten Patienten gelang dieses über eine sterile Nadelelektrode, die allerdings beim Tragen der neuen Orbitaepithese jedes Mal neu in den Muskel eingestochen werden mußte. Beim zweiten Patienten wurden die Muskelpotentiale über eine subcutan implantierte dünne EMG - Elektrode aufgenommen. Die Myosignale wurden bei beiden Patienten bipolar abgeleitet. Die zweite differente Elektrode kontaktierte einen implantatfixierten Magneten. Die Neutralelektrode war mit einem weiteren implantatverankerten Magneten verbunden. Die abgeleiteten Muskelimpulse beim Lidschlag konnten so bei den Patienten eine zum gesunden Oberlid synchrone künstliche Lidbewegung initiieren. Da die Bauteile zur künstlichen Lidbewegung noch nicht beliebig klein zu gestalten sind, können zur Zeit noch nicht alle Orbitaepithesenträger mit der neuartigen Epithese rehabilitiert werden. Um bei Patienten mit kleineren Orbitadefekten die Epithese eingliedern zu können, muß sich die zukünftige Forschung auf eine noch weitere Größenreduktion der einzelnen Komponenten konzentrieren. Durch die Entwicklung von telemetrischen Verfahren wird es möglich sein, die von einer intramuskuären implantierten, für diese Anwendung optimierten EMG - Elektrode emfangenen Signale ohne infektionsgefährdete Hautdurchleitung zur Epithese zu übertragen. / An orbit defect with loss of the eye and its delicate lid structures can be concealed with an implant anchored silicon facial prosthesis. This method assures secure retention and good esthetic results as long as the eye remains open. However, when the healthy lid closes, the immobility of the prosthesis becomes conspicuous. The aim of this development was to animate the artificial lid in the orbita prosthesis to give the patient a much more natural appearance. All components in the prosthesis were integrated to create an artificial lid that would blink in synchrony with that of the healthy eye. The material which proved to be most suited for the moveable eyelid was cast latex milk. It was elastic, would take dyes and was robust enough to withstand approximately 30 involuntary lid movements per minute. The artificial upper lid was pulled up behind the eye prosthesis by means of a fine thread, analogous to the natural lid opener. This is driven by a DC micromotor which lifts the upper lid in a cranial direction with a polyamid thread attached to the reinforced rim of the lid. The thread was wound onto a minute pulley. After a successful model had been constructed, an electronic circuit was developed in SMD (Surface Mounted Device) technique which drove the motor and processed the muscle potential necessary for the synchronization. These two double-sided circuit boards were positioned directly behind the artificial eye, which had been created specially by an ophthalmologist. By means of five integrated potentiometers, the muscle signals picked up were individually modified and adjusted to eliminate any delays in the lid movement. The low nominal capacity provided by accumulators ruled them out as a possible power supply for the electronics and motor, and instead, a small, light replaceable battery, capable of powering the motor for 7 to 14 days, was chosen. The individual components were then assembled and housed in a case of rigid acrylate plastic. It was possible to position the battery either under or behind the motor and to and stagger the electronics parts to the position of the battery and motor. This enhanced the adaptability of the case's geometric form to the individual orbit defect. Clinical tests with healthy test persons and patients with implant-anchored orbital prostheses demonstrated that muscle potentials from the orbicularis oculi muscle could be picked up from the healthy upper lid with bipolar needle electrodes. This was also possible in some cases when after exenteration the orbicularis oculi muscle remained partially active and continued to emit muscle potentials. With these biopotentials, the synchronic lid movement of the prototype was tested on a voluntary healthy test person. It functioned flawlessly. After extensive laboratory tests, two patients were rehabilitated with the new orbita prosthesis. For each patient a case for the components was designed and fitted into a silicone prosthesis retained with implant-anchored magnet abutments. The muscle potentials were conducted by an intramuscular electromyography (EMG) to trigger synchronous lid movement. With the first patient, a sterile needle electrode was used, but this had to be reinserted into the muscle each time the prosthesis was fitted. In the second patient the muscle potentials were picked up via a thin EMG-electrode implanted subcutaneously. In both cases bipolar conduction was taken. The second different electrode was attached to one implant-anchored magnet; the neutral electrode to another. In both patients, the muscle impulses emitted during lid closure initiated an artificial lid movement in synchrony with the healthy eyelid. Since the component parts cannot be reduced beyond a certain minimum size, not all orbit prosthesis wearers can be rehabilitated with the new prosthesis. In order to fit patients with smaller defects, future research will have to concentrate on a further reduction in component size. With further developments in telemetric procedures it will become possible to transmit signals received from a EMG electrode implanted in the muscle to the prosthesis without the dangers of infection inherent in conducting them through the skin.

INTRODUÇÃO: A osteotomia em monobloco para o avanço do terço médio e superior da face combinada ao alongamento ósseo gradual consiste em uma modalidade consagrada de tratamento das craniossinostoses sindrômicas. No entanto, alguns aspectos referentes à morfologia do terço médio facial dessas condições, seu comportamento durante o crescimento e quando submetido à cirurgia ainda são pouco compreendidos. OBJETIVOS: Avaliar, por meio de imagens tomográficas tridimensionais, um grupo de pacientes submetidos ao avanço frontofacial em monobloco associado à distração osteogênica, em idade de imaturidade esquelética, quanto às características morfológicas do terço médio da face, aos resultados obtidos com o avanço e seus efeitos no crescimento craniofacial comparados a um grupo não sindrômico. MÉTODOS: A amostra foi constituída de 25 indivíduos, em idade de dentição mista sendo: 16 submetidos ao avanço com exames de tomografia pré e pós-operatório e 9 de um grupo comparativo não sindrômico com exames de tomografia com 1 ano de intervalo durante o período de crescimento. Pontos de referência foram marcados nos modelos de superfície tridimensional do terço médio facial e as seguintes mensurações foram realizadas para o grupo comparativo, dos pacientes antes e após a cirurgia: determinação das dimensões da maxila, ângulos faciais e distâncias entre pontos na base do crânio e superfície da face. A mensuração das distâncias entre pontos correspondentes marcados nas imagens sobrepostas dos diferentes tempos foi utilizada para determinação da magnitude do avanço e comparada aos valores do grupo não sindrômico. Da mesma forma, o crescimento craniofacial prévio à cirurgia foi avaliado em 4 pacientes da amostra que dispunham de exames de tomografia com 1 ano de intervalo previamente ao avanço. O crescimento pós-operatório foi avaliado em 9 pacientes que tinham exames de tomografia com 1 ano de intervalo após o procedimento e ambos foram comparados com o crescimento observado no grupo não sindrômico. RESULTADOS: A maxila dos pacientes com craniossinostose é menor em largura e comprimento comparada aos não sindrômicos. Os ângulos faciais formados pelos pontos orbitário direito e esquerdo e ponto A, zigomático direito e esquerdo e ponto A são estatisticamente diferentes dos não sindrômicos. As distâncias do ponto Sela aos pontos do terço médio são menores nos pacientes comprometidos mas atingem valores comparáveis aos não sindrômicos após o avanço. O crescimento no grupo de crianças com craniossinostose embora não tenha apresentado valores estatisticamente diferentes dos demais, numericamente cresce menos que o grupo comparativo tanto prévia como posteriormente ao procedimento. CONCLUSÕES: O terço médio facial nas craniossinostoses apresenta configuração anatômica alterada, a maxila é hipoplásica e os ângulos faciais mais obtusos denotam uma menor projeção da porção central em relação às laterais. O avanço permite a normalização da posição, no entanto não muda a configuração alterada do terço médio. O crescimento aparentemente está comprometido independente do procedimento cirúrgico / INTRODUCTION: The monobloc osteotomy combined with gradual bone lengthening to advance the upper and midface is an established treatment modality of syndromic craniosynostosis. However, some aspects related to midface morphology and changes during growth and following surgery are still poorly understood. OBJECTIVES: Three-dimensional tomographic image evaluation of patients undergoing frontofacial monobloc distraction group in immature skeletal age is the objective of the study. The morphological characteristics of the midface, the results obtained with the advancement and its effects on craniofacial growth compared to a nonsyndromic group were evaluated. METHODS: The sample consisted of 25 patients of mixed dentition age: 16 submitted to advancement with pre- and postsurgery CT scans and 9 of a comparison nonsyndromic group with CT scans at 1-year intervals during craniofacial growth. Reference points were placed in the 3-dimensional surface models of the midface, and the measurements were performed to compare patients in the pre- and postsurgery groups: determination of the maxillary dimensions, facial angles, and distances between points on the skull base and the surface of the face. The measurement of distances between homologous points placed in the 3D superimposition of images from different times was used to determine the magnitude of the advancement and compared to the values of the nonsyndromic group. Presurgical growth was evaluated in 4 patients that had a 1-year interval prior to the surgery CT scans. Postsurgical growth was evaluated in 9 patients who had CT scans at 1-year intervals after the procedure, and they were compared with the growth of the nonsyndromic group. RESULTS: The maxillary width and length of syndromic patients are smaller compared to the nonsyndromic group. Facial angles formed by right and left orbital points and point A and the right and left zygomatic and Point A are statistically different from those in the nonsyndromic group. The distances from the point Sela to the midface points are lower in syndromic patients but reach values comparable to the nonsyndromic group after advancement. However, growth in the group of children with craniosynostosis did not yield statistically different values of others; it is smaller than the comparison group. CONCLUSION: The midface of syndromic craniosynostosis has a changed anatomical shape, the maxilla is hypoplastic, and the most obtuse facial angles denote a lower projection of the central portion relative to the lateral. The advancement allows the normalization of the position, but the midface shape is not changed.The growth apparently is affected independently of the surgical procedure

Submitted by Ana Lúcia Torres (bfmhuap@gmail.com) on 2017-09-28T15:32:12Z No. of bitstreams: 2 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Clarissa Fontoura dissertação final 2013.pdf: 4771397 bytes, checksum: c43a071b5dc04dfd4428016dfecf98f9 (MD5) / Approved for entry into archive by Ana Lúcia Torres (bfmhuap@gmail.com) on 2017-09-28T15:32:31Z (GMT) No. of bitstreams: 2 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Clarissa Fontoura dissertação final 2013.pdf: 4771397 bytes, checksum: c43a071b5dc04dfd4428016dfecf98f9 (MD5) / Made available in DSpace on 2017-09-28T15:32:31Z (GMT). No. of bitstreams: 2 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Clarissa Fontoura dissertação final 2013.pdf: 4771397 bytes, checksum: c43a071b5dc04dfd4428016dfecf98f9 (MD5) Previous issue date: 2013 / University of Iowa / A fissura labial com ou sem fissura palatina (FL/P) é uma anomalia craniofacial muito comum em humanos e pode ocorrer como característica de um quadro sindrômico ou isolada quando os indivíduos afetados não apresentam qualquer anomalia estrutural associada. A etiologia da FL/P é complexa, com a contribuição de componentes genéticos e ambientais. Diversos genes/loci candidatos a FL/P foram sugeridos nos últimos anos, contudo, discrepâncias entres os resultados são comumente encontradas. Recentemente, os genes WNT3, WNT9B, PBX1, TP63, e ARGHAP29 foram citados como possíveis genes candidatos à etiologia das FL/P devido à importante função que exercem durante o desenvolvimento craniofacial. O objetivo deste trabalho foi avaliar a associação entre polimorfismos nestes genes com o fenótipo de FL/P em uma população brasileira. Para tanto, setenta famílias, constituídas por um indivíduo afetado e seus pais não afetados, foram examinadas clinicamente e amostras de saliva foram coletadas para estudos moleculares. Um total de 20 polimorfismos distribuídos nos genes WNT3, WNT9B, PBX1, P63, e ARGHAP29 foram estudados com relação à associação com FL/P utilizando-se o método de TaqMan. O teste de desequilíbrio de transmissão (TDT) foi utilizado para detectar a associação de alelos em cada marcador nos indivíduos com FL/P, através do programa Family-Based Association Test (FBAT). O nível de significância foi determinado em P ≤ 0,05. Houve associação positiva entre FL/P para os genes ARGHAP29 (rs1048854), TP63 (rs4575879) e WNT9B (rs1530364) com FL/P. Não foi detectada associação entre alelos e genótipos de WNT3 e PBX1 com FL/P. Estes resultados sugerem que ARGHAP29, TP63 e WNT9B podem estar envolvidos na etiologia da FL/P na população estudada / Cleft lip with or without cleft palate (CL/P) is a common craniofacial anomaly in humans, and may occur as part of a syndrome or isolated, when the affected individuals do not present any associated structural anomalies. The etiology of CL/P is complex, with both genetic and environmental factors involved. Several genes /loci have been suggested in the past years although discrepancies among results are often found. Previous studies have demonstrated that WNT3, WNT9B, PBX1, TP63, and ARGHAP29 may be involved in the etiology of the CL/P due to the important function of these genes during craniofacial development. The aim of this study was to evaluate the association between polymorphisms in these genes and CL/P in a Brazilian population. Seventy families, composed by an affected individual and their unaffected parents, were examined clinically and saliva samples were collected for molecular analyses. A total of 20 polymorphisms distributed in WNT3, WNT9B, PBX1, TP63, and ARGHAP29 were investigated using the TaqMan method. The Family-Based Association Test (FBAT) and the transmission disequilibrium test (TDT) were used to verify the association between each marker allele and CL/P. The level of significance was established at P ≤ 0.05. Positive associations were detected between CL/P and three markers in ARGHAP29 (rs1048854), TP63 (rs4575879) and WNT9B (rs1530364) genes. No association was detected between CL/P and markers in WNT3 and PBX1. These results suggest that ARGHAP29, WNT9B and TP63 may be involved in the etiology of CL/P in the studied population

Introduction : La scaphocéphalie est la craniosynostose monosuturaire la plus commune (1/2000). Celle-ci est causée par la fusion prématurée de la suture sagittale. Une chirurgie corrective de la voûte crânienne peut être effectuée dans la première année de vie de l’enfant. Il n’existe actuellement aucune donnée précise dans la littérature scientifique étudiant l’occlusion chez les patients scaphocéphales, ainsi que les impacts potentiels de la chirurgie de la voûte crânienne sur celle-ci. Objectifs : L’objectif primaire de cette étude est de décrire et comparer la malocclusion dento-squelettique d’un groupe de patients scaphocéphales à une population pédiatrique normale. L’objectif secondaire est d’évaluer la différence au niveau de l’occlusion entre un sous-groupe de patients scaphocéphales ayant eu une chirurgie corrective de la voûte crânienne et un sous-groupe ne l’ayant pas eu. Méthodologie : Quatre-vingt-onze patients scaphocéphales (2-11 ans; 71 garçons) de la banque de données de la Clinique de Craniofacial du CHU Ste-Justine ont formé le groupe expérimental. Tous les patients ont eu un examen orthodontique complet et ont été suivis. Parmi ceux-ci, quarante-quatre avaient eu une chirurgie corrective de la voûte crânienne et quarante-sept n’en avaient pas eu, mais étaient suivis régulièrement à la clinique. Trente-huit (33 garçons; 17 opérés) de ces patients ont eu des radiographies céphalométriques latérales et parmi ceux-ci, un certain nombre ont reçus des suivis de croissance radiologiques. Résultats : Les valeurs cliniques de la classification dentaire, ainsi que la mesure du surplomb horizontal, ont indiqué une augmentation de la prévalence de malocclusions de classe II chez les enfants scaphocéphales. Par contre, les valeurs céphalométriques indicatrices de malocclusion squelettique de classe II (ex. : N-A perp HP, N-B perp HP, N-Pog perp HP, Wits, N-A-Pog) sont demeurées dans les limites de la normale. Certaines valeurs céphalométriques présentent une différence statistiquement significative entre les patients opérés et non opérés (ANS-PNS t2, p=0.025; /1-FH t2, p=0.028), mais ces variations individuelles ne sont pas reliées à la scaphocéphalie. Conclusion : Les enfants scaphocéphales présentent cliniquement davantage de malocclusions de classe II que les enfants normaux. Par contre, les valeurs radiologiques antéro-postérieures et transverses demeurent dans les limites de la normale. La chirurgie corrective de la voûte crânienne n’affecte également pas l’occlusion chez ces patients. / Introduction: Scaphocephaly, the most common unisutural craniosynostosis (1/2000), results from a premature fusion of the sagittal suture. Usually, cranial vault corrective surgery is performed during the first year of life. There is currently no scientific data regarding occlusion of scaphocephalic patients, or the potential effect of craniovault surgery on the occlusion. Objectives: The primary objective of this study is to describe occlusion in scaphocephalic patients and to compare with a general pediatric population matched for age and gender. The second objective is to compare the difference in occlusion of surgically treated scaphocephalic subgroup versus unoperated scaphocephalic subgroup. Methods: Ninety-one scaphocephalic patients (2-11 y.o.; 71 boys) from the craniofacial clinic of CHU Ste-Justine’s database formed our experimental group. All patients received an orthodontic assessment and were followed up. Among them, forty-four underwent craniovault surgery while forty-seven remained unoperated. Thirty-eight (33 boys; 17 operated) had lateral cephalometric radiographies, some of whom also had cephalometric growth follow-ups. Results: Clinical values for dental classification and overjet indicate an increased prevalence of class II malocclusions in scaphocephalic patients. However, cephalometric values indicative of skeletal class II malocclusions (i.e. N-A perp HP, N-B perp HP, N-Pog perp HP, Wits, N-A-Pog) remained within normal limits. Some cephalometric values present statistically significant differences between operated and unoperated patients (ANS-PNS t2, p=0.025; /1-FH t2, p=0.028), but these are individual variations not related to scaphocephaly. Conclusion: Scaphocephalic patients clinically present more class II malocclusions when compared with normal children. Radiographic values remain however within normal limits for both antero-posterior and transverse dimensions. Corrective craniovault surgery does not affect occlusion in these patients.

As anomalias craniofaciais ocasionam comprometimentos estéticos e funcionais com grande impacto na saúde e na integração social da criança, com interferência no desenvolvimento global e social. Das anomalias craniofaciais este estudo abordou as Fissuras Labiopalatinas (FLP) e o Espectro Óculo Aurículo Vertebral (EOAV). As FLP constituem malformações resultantes de falta do fechamento completo dos tecidos que compõe o lábio e o palato. O EOAV, também conhecido como Síndrome de Goldenhar, é uma anomalia congênita de etiologia desconhecida, com manifestação genética variável e de causa bastante heterogênea. Conhecer as habilidades funcionais e o impacto destas no desenvolvimento global de crianças com EOAV e FLP pode otimizar o desenvolvimento de programas de prevenção e intervenção para promover a saúde e a integração social destes indivíduos. Este estudo foi delineado com objetivo de verificar e comparar o desempenho em habilidades funcionais quanto ao desempenho nas áreas de autocuidado, mobilidade, função social e nível de independência entre crianças com EOAV, crianças com FLP e um grupo comparativo, de crianças sem anomalias. O modelo de pesquisa foi observacional descritivo transversal com uma casuística de 39 pais/responsáveis de crianças na faixa etária entre três anos e sete anos e seis meses, de ambos os gêneros. Foram convidados para participar pais/responsáveis de crianças em tratamento no Hospital de Reabilitação de Anomalias Craniofaciais da Universidade e São Paulo (HRAC-USP) os quais foram divididos em três grupos: dois experimentais e um grupo comparativo. O instrumento para coleta dos dados das habilidades funcionais foi o Pediatric Evaluation of Disability Inventory (PEDI), em sua versão adaptada para o português. A avaliação é realizada por meio de entrevista com o cuidador, o qual deve saber informar sobre o desempenho da criança em atividades e tarefas típicas da rotina diária. Os dados foram apresentados por análise descritiva com medidas de tendência central (média aritmética), dispersão (desvio-padrão) e distribuição de frequência, nas variáveis: idades, gênero e nível socioeconômico da família e caracterização da casuística. Para as análises das pontuações bruta e normativa do questionário PEDI no que se refere às habilidades funcionais e a assistência do cuidador nas três áreas de função autocuidado, mobilidade e função social, foi utilizado o teste de variância One Way, e para o teste de normalidade foi utilizado Shapiro Wilk para variável dependente. A análise comparativa foi realizada pelo teste de Kruskal-Wallis, adotando-se o valor de significância de p< 0,05. Os resultados deste estudo na análise comparativa nas habilidades funcionais na mobilidade, houve diferença estatisticamente significante na comparação entre os grupos GC vs GEEOAV, no escore bruto, e entre os grupos GC vs GEEOAV e GC vs GEFLP, no escore normativo.Na assistência do cuidador no autocuidado, houve diferença estatisticamente significante na comparação entre os grupos GC vs GEEOAV, no escore normativo. Na assistência do cuidador na mobilidade, houve diferença estatisticamente significante na comparação entre os grupos GC vs GEEOAV nos escores bruto e normativo.Na assistência do cuidador na função social houve diferença estatisticamente significante na comparação entre os grupos GC vs GEFLP. / Craniofacial 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.

INTRODUÇÃO: A osteotomia em monobloco para o avanço do terço médio e superior da face combinada ao alongamento ósseo gradual consiste em uma modalidade consagrada de tratamento das craniossinostoses sindrômicas. No entanto, alguns aspectos referentes à morfologia do terço médio facial dessas condições, seu comportamento durante o crescimento e quando submetido à cirurgia ainda são pouco compreendidos. OBJETIVOS: Avaliar, por meio de imagens tomográficas tridimensionais, um grupo de pacientes submetidos ao avanço frontofacial em monobloco associado à distração osteogênica, em idade de imaturidade esquelética, quanto às características morfológicas do terço médio da face, aos resultados obtidos com o avanço e seus efeitos no crescimento craniofacial comparados a um grupo não sindrômico. MÉTODOS: A amostra foi constituída de 25 indivíduos, em idade de dentição mista sendo: 16 submetidos ao avanço com exames de tomografia pré e pós-operatório e 9 de um grupo comparativo não sindrômico com exames de tomografia com 1 ano de intervalo durante o período de crescimento. Pontos de referência foram marcados nos modelos de superfície tridimensional do terço médio facial e as seguintes mensurações foram realizadas para o grupo comparativo, dos pacientes antes e após a cirurgia: determinação das dimensões da maxila, ângulos faciais e distâncias entre pontos na base do crânio e superfície da face. A mensuração das distâncias entre pontos correspondentes marcados nas imagens sobrepostas dos diferentes tempos foi utilizada para determinação da magnitude do avanço e comparada aos valores do grupo não sindrômico. Da mesma forma, o crescimento craniofacial prévio à cirurgia foi avaliado em 4 pacientes da amostra que dispunham de exames de tomografia com 1 ano de intervalo previamente ao avanço. O crescimento pós-operatório foi avaliado em 9 pacientes que tinham exames de tomografia com 1 ano de intervalo após o procedimento e ambos foram comparados com o crescimento observado no grupo não sindrômico. RESULTADOS: A maxila dos pacientes com craniossinostose é menor em largura e comprimento comparada aos não sindrômicos. Os ângulos faciais formados pelos pontos orbitário direito e esquerdo e ponto A, zigomático direito e esquerdo e ponto A são estatisticamente diferentes dos não sindrômicos. As distâncias do ponto Sela aos pontos do terço médio são menores nos pacientes comprometidos mas atingem valores comparáveis aos não sindrômicos após o avanço. O crescimento no grupo de crianças com craniossinostose embora não tenha apresentado valores estatisticamente diferentes dos demais, numericamente cresce menos que o grupo comparativo tanto prévia como posteriormente ao procedimento. CONCLUSÕES: O terço médio facial nas craniossinostoses apresenta configuração anatômica alterada, a maxila é hipoplásica e os ângulos faciais mais obtusos denotam uma menor projeção da porção central em relação às laterais. O avanço permite a normalização da posição, no entanto não muda a configuração alterada do terço médio. O crescimento aparentemente está comprometido independente do procedimento cirúrgico / INTRODUCTION: The monobloc osteotomy combined with gradual bone lengthening to advance the upper and midface is an established treatment modality of syndromic craniosynostosis. However, some aspects related to midface morphology and changes during growth and following surgery are still poorly understood. OBJECTIVES: Three-dimensional tomographic image evaluation of patients undergoing frontofacial monobloc distraction group in immature skeletal age is the objective of the study. The morphological characteristics of the midface, the results obtained with the advancement and its effects on craniofacial growth compared to a nonsyndromic group were evaluated. METHODS: The sample consisted of 25 patients of mixed dentition age: 16 submitted to advancement with pre- and postsurgery CT scans and 9 of a comparison nonsyndromic group with CT scans at 1-year intervals during craniofacial growth. Reference points were placed in the 3-dimensional surface models of the midface, and the measurements were performed to compare patients in the pre- and postsurgery groups: determination of the maxillary dimensions, facial angles, and distances between points on the skull base and the surface of the face. The measurement of distances between homologous points placed in the 3D superimposition of images from different times was used to determine the magnitude of the advancement and compared to the values of the nonsyndromic group. Presurgical growth was evaluated in 4 patients that had a 1-year interval prior to the surgery CT scans. Postsurgical growth was evaluated in 9 patients who had CT scans at 1-year intervals after the procedure, and they were compared with the growth of the nonsyndromic group. RESULTS: The maxillary width and length of syndromic patients are smaller compared to the nonsyndromic group. Facial angles formed by right and left orbital points and point A and the right and left zygomatic and Point A are statistically different from those in the nonsyndromic group. The distances from the point Sela to the midface points are lower in syndromic patients but reach values comparable to the nonsyndromic group after advancement. However, growth in the group of children with craniosynostosis did not yield statistically different values of others; it is smaller than the comparison group. CONCLUSION: The midface of syndromic craniosynostosis has a changed anatomical shape, the maxilla is hypoplastic, and the most obtuse facial angles denote a lower projection of the central portion relative to the lateral. The advancement allows the normalization of the position, but the midface shape is not changed.The growth apparently is affected independently of the surgical procedure

This doctoral thesis is submitted in the form of scientific publications together with theoretical introduction. The present state of knowledge of facial approximation methods is presented in the introduction. Areas of application, principles of the method and classification of the methods according to medium used are briefly described. Accuracy and limits of the method are further described as they form a base of the research of this thesis. Simultaneous existence of multiple prediction guidelines, of which the accuracy is not known or published, is typical characteristic of the facial approximation method. The aim of this thesis was to assess the accuracy of the particular prediction rules for estimation of position and size of facial parts (eyes, nose, lips), and based on the results to recommend the most accurate and suitable guidelines for middle European population. An assessment of the strength of the association between craniofacial shape and the shape of soft tissues in the profile using geometric morphometric methods, and determination of the extent to which it might be possible to predict the latter from the former were the purpose of the second part of the research. Material for this study consisted of 87 lateral head cephalograms of a recent adult Central European population (52 males...

Doctor Educationis / This study was a cephalometric and dental investigation of the treatment outcomes of UCLP children treated at the Red Cross Children's Hospital (RCCH) with respect to craniofacial morphology and dental arch relationship. The quality of the outcome for the RCCH group was compared with the outcomes reported for the Six-Centre International Study (Melsted et al., 1992; Mars et al., 1992). The sample consisted of 20 (11 females, 9 males) consecutively treated UCLP children who had cephalometric and dental records taken between the ages of8 to 11years (mean 10.13 ± 1.2 years). The cephalometric analysis described by Melsted et al. (1992) was used to evaluate the skeletal and soft tissue morphology. The quality of the dental arch relationship was measured according to the Gosion Yardstick (Mars et al., 1987). The treatment outcome of children treated at the RCCH was evaluated with respect to craniofacial form and dental arch relationship. When comparing the mean cephalometric skeletal parameters of the RCCH to the six centres in the Eurocleft study, a significant difference was found between the RCCH group and centre D for most of the variables. A significant increase in the upper incisor inclination and maxillary inclination was found in the RCCH patients compared to the European centres. The difference in the soft tissue parameters was limited to the relative protrusion of the nose and the sagittal soft tissue variable sss-ns-pgs. The analysis of the Goslon scores showed a significant difference between the RCCH group and centres C, D, and F. According to the Goslon score, 85% of the RCCH patients had good to satisfactory dental arch relationship, which was comparable to that recorded for centres A(92%), B(89%) and C(94). In conclusion, the results of the cephalometric analysis and the Goslon Yardstick showed a significant difference between the RCCH group and centre D. The GosIon score indicated good quality of the dental arch relationship, which faired favourably with the better centres in the Six Centre Study.

Indiana University-Purdue University Indianapolis (IUPUI) / Down 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.