Distraction osteogenesis is a recently developed option for surgical correction of the craniofacial discrepancy but there are few studies that look at the long-term effect of the relapse phenomenon. This study was conducted to look at the bone and muscle response at different consolidation and remodelling periods. Thirty ten-week-old Merino lambs were subjected to this current study. The surgically created defect was performed on the experimental side (right) by superficial masseter myectomy and a condylectomy. The lambs showed a midline shift to the affected side three months later. Marker screws were placed on both sides of the mandible to examine the adjustment of the vertical and horizontal dimension of the mandible. In this present study, the left side was used as the control. The affected mandible was surgically corrected using a vertical ramus distraction osteogenesis protocol. The latency period was 7 days where the device was inactive. Distraction was then performed at 1 mm per day until the distracted gap was 10 mm on a radiograph. Initially, the sheep were divided into 8 groups but later the groups were refined into 6 groups for statistical analysis; Group 1: Immediately post distraction Group 2: Consolidation 2 months and remodelling 1 month Group 3: Consolidation 3 months Group 4: Consolidation 3 months and remodelling 1 month Group 5: Consolidation 3 months and remodelling 2 months Group 6: Consolidation 4 months A ‘hemifacial microsomia like’ defect was successfully created and it was then corrected using vertical ramus distraction. Cephalometric examination showed that the vertical height was significantly increased after the distraction was completed. Examination of the bone and muscle was performed to look at the adjustment of bone structure in relation to relapse. The bone investigation was conducted using radiological analysis, histological analysis and direct measurement of the vertical screws at pre-distraction and at sacrifice as well as histomorphometric analysis. The radiological examination was conducted using cephalometric analysis of the distance between marker screws on both experimental and control sides. Bone histology was investigated on the middle and posterior position of the experimental side. The histomorphometric analysis was conducted using Quantiment analysis software. The muscle responses and adaptation were investigated by measuring: the weight of the masseter and medial pterygoid muscles; length between 6 different points (4 landmarks); cross section and thickness of masseter muscles by ultrasound and by histopathological examination of both masseter and medial pterygoid muscles on the experimental and the control sides. The distracted bone showed a completion of maturation after a three month consolidation period. Bone formation was shown to continue after longer consolidation periods. A two-month consolidation period was insufficient time for the bone to consolidate and stable, as there was evidenced of relapse during this period. There was no increased in muscle mass after distraction. The distraction altered the length of anterior and posterior planes and the size of cross sectional area and thickness of origin and middle level of masseter muscles. There were no changes in the length of the middle and oblique planes and the cross sectional area of the insertion of the masseter muscle. The distracted muscle adapted well after a longer consolidation and remodelling period but was sensitive to any surgical procedure such as device removal. The adjustment was observed to continue within the first month after surgical removal of device. The weight, length of planes, cross section and thickness was temporarily reduced on the experimental side but continued to improve and stabled during the second month after removal of the device. The first month after device removal also showed that histopathological activity was increased after both 2 and 3 month consolidation periods. Importantly, muscle histopathology was back to almost normal activity after the second month of device removal, following a 3 month consolidation period. This study showed that it was possible to create a ‘hemifacial microsomia like’ defect in very young lambs. The defect was then successfully corrected by a vertical distraction osteogenesis procedure. It was also shown that the sufficient time for the device to be fixed in place (consolidation period) was 3 months or longer as the bone and muscle was stable after that period of time. Results from this investigation have important implications to the management of similar conditions in humans. / http://proxy.library.adelaide.edu.au/login?url= http://library.adelaide.edu.au/cgi-bin/Pwebrecon.cgi?BBID=1346836 / Thesis (Ph.D.) - University of Adelaide, School of Dentistry, 2008.

Introdução: O primeiro e segundo arcos faríngeos contribuem com o desenvolvimento craniofacial e, interferências no desenvolvimento normal destas estruturas podem resultar em anomalias maxilar, mandibular e auricular. Hipoplasia de mandíbula, dermóide epibulbar e anomalias vertebrais são as características clínicas mais frequentes em associação com anomalias de orelha, resultando no grupo denominado espectro oculoauriculovertebral (EOAV). Trata-se de uma condição de etiologia heterogênea e complexa com grande variabilidade clínica. Objetivos: Investigar os sinais clínicos de uma amostra de indivíduos com diagnóstico de espectro oculoauriculovertebral; calcular a frequência dos sinais clínicos presentes nesses indivíduos e estabelecer possíveis associações entre os principais achados clínicos observados nos indivíduos da presente casuística. Indivíduos Estudados e Métodos: Estudo retrospectivo de 389 indivíduos com diagnóstico clínico de EOAV. O critério mínimo estabelecido para o estudo foi a presença de microtia isolada e/ou apêndice pré-auricular associados, ou não, à hipoplasia mandibular. Os resultados foram analisados por meio de estatística descritiva, utilizando as frequências absolutas (n) e relativas (%) e verificadas por meio do teste Qui-quadrado, com cálculo de odds ratio e intervalo de confiança. Resultados e Conclusão: Razão sexual 4M:3F; casos de recorrência, gemelaridade e consanguinidade foram observados em 15,56%, 3,85% e 2,22% da amostra, respectivamente. Intercorrências gestacionais foram relatadas por 15,09% das genitoras. Análise citogenética apontou 2 indivíduos com alteração estrutural e 2 indivíduos com alteração numérica. Frequências altas foram encontradas, principalmente, em assimetria facial (96,40%), hipoplasia do ramo mandibular (96,40%), microtia (87,40%), anomalia de coluna vertebral (77,17%), apêndice pré-auricular (60,41%), fissura Tessier 7 (31,62%), dermóide epibulbar (19,02%), fissura de lábio com ou sem palato (18,25%) e fissura de palato (15,42%). Envolvimento craniofacial bilateral foi observado em 48,82% e, unilateral, em 51,18%, estando o lado direito envolvido em 59,49% dos casos. Microtia do tipo III estava presente em 57,11% e do tipo II, em 36,01%. Dentre as anomalias estruturais de orelha média e/ou interna, o acometimento de orelha média foi o mais frequente, sendo observado em 27,91%. Em relação à deficiência auditiva, o tipo condutivo foi o mais frequente, encontrado em 70,42% das orelhas. Dentre as associações de achados clínicos realizadas, observou-se associação estatisticamente significativa entre fissura Tessier 7 e anomalia ocular (incluindo dermóide epibulbar); entre dermóide epibulbar e outras anomalias oculares; entre lateralidade da fissura de lábio com ou sem palato e acometimento craniofacial; entre anomalia de orelha média e microtia tipo III; entre anomalia de orelha interna e microtia tipo II; entre anomalia de orelha média e interna com microtia tipo III; e entre ausência de anomalia de orelha interna e/ou externa e ausência de microtia. Diante dos resultados obtidos, investigação sistemática por imagem de osso temporal, coluna vertebral, costelas e sistema cardíaco deve fazer parte do protocolo de avaliação dos indivíduos com EOAV. / Introduction: The first and second pharyngeal arches contribute to the craniofacial development, and any interference in the normal development of these structures can result in maxilar, mandibular and auricular anomalies. Mandibular hypoplasia, epibulbar dermoids, and vertebral anomalies are the most frequently clinical aspects associated with auricular anomaly, resulting in a condition defined as oculoauriculovertebral spectrum, which is a heterogeneous, variable and complex clinical condition. Objectives: Investigate the clinical findings of individuals with OAVS clinically diagnosed, calculate the frequency of the clinical findings presented in these individuals and establish possible associations among the main clinical findings observed in these series of individuals. Purpose and Methods: Retrospective study of the individuals with OAVS clinically diagnosed. The minimal criteria established for the study was the presence of isolated microtia and/or preauricular tags, associated or not associated with mandibular hypoplasia. The results were analyzed by means of descriptive analyzes, using the absolute (n), relative (%) frequency and verification by means of Qui-square test, with odds ratio calculation and trust interval. Results and Conclusion: Sex ratio 4M:3F; cases of familial recurrence, twinning and consanguinity were observed at 15.56%, 3.85% and 2.22% of the sample, respectively. Pregnancy complications were reported by 15.09% of the mothers. Cytogenetic analysis showed two individuals with structrural anomaly and two with numerical alterations. High frequences were observed mainly in facial asymmetry (96.40%), mandibular hypoplasia (96.40%), microtia (87.40%), vertebral anomalies (77.17%), preauricular tags (60.41%), Tessier 7 cleft (31.62%), epibulbar dermoid (19.02%), cleft lip and/or cleft palate (18.25%), and cleft palate (15.42%). Bilateral craniofacial involvement was observed in 48.82% and unilateral in 51.18%. The right side was involved in 59.49% of the cases. Microtia type III was observed in 57.11% of the ears and type II in 36.01%. Among the structural abnormalities of the middle and/or internal ear, the involvement of middle ear was the most frequent, being observed in 27.91%, regarding that the hearing loss of the conductive type was the most frequent, observed in 70.42% of the ears. Among the clinical associations performed, there was a statistically significant association between Tessier 7 cleft and eye abnormalities (including dermoid epibulbar); between epibulbar dermoid and other eye abnormalities; between the lateral cleft lip with or without palate and craniofacial involvement; between middle ear anomaly and microtia type III; between inner ear anomaly and microtia type II; between middle and inner ear anomaly with microtia type III; and between absence of inner and/or external ear anomaly and absence of microtia. Based on these results, systematic investigation by image of temporal bone, spine, ribs and heart system should be part of the evaluation protocol of individuals with OAVS.

Introdução: O primeiro e segundo arcos faríngeos contribuem com o desenvolvimento craniofacial e, interferências no desenvolvimento normal destas estruturas podem resultar em anomalias maxilar, mandibular e auricular. Hipoplasia de mandíbula, dermóide epibulbar e anomalias vertebrais são as características clínicas mais frequentes em associação com anomalias de orelha, resultando no grupo denominado espectro oculoauriculovertebral (EOAV). Trata-se de uma condição de etiologia heterogênea e complexa com grande variabilidade clínica. Objetivos: Investigar os sinais clínicos de uma amostra de indivíduos com diagnóstico de espectro oculoauriculovertebral; calcular a frequência dos sinais clínicos presentes nesses indivíduos e estabelecer possíveis associações entre os principais achados clínicos observados nos indivíduos da presente casuística. Indivíduos Estudados e Métodos: Estudo retrospectivo de 389 indivíduos com diagnóstico clínico de EOAV. O critério mínimo estabelecido para o estudo foi a presença de microtia isolada e/ou apêndice pré-auricular associados, ou não, à hipoplasia mandibular. Os resultados foram analisados por meio de estatística descritiva, utilizando as frequências absolutas (n) e relativas (%) e verificadas por meio do teste Qui-quadrado, com cálculo de odds ratio e intervalo de confiança. Resultados e Conclusão: Razão sexual 4M:3F; casos de recorrência, gemelaridade e consanguinidade foram observados em 15,56%, 3,85% e 2,22% da amostra, respectivamente. Intercorrências gestacionais foram relatadas por 15,09% das genitoras. Análise citogenética apontou 2 indivíduos com alteração estrutural e 2 indivíduos com alteração numérica. Frequências altas foram encontradas, principalmente, em assimetria facial (96,40%), hipoplasia do ramo mandibular (96,40%), microtia (87,40%), anomalia de coluna vertebral (77,17%), apêndice pré-auricular (60,41%), fissura Tessier 7 (31,62%), dermóide epibulbar (19,02%), fissura de lábio com ou sem palato (18,25%) e fissura de palato (15,42%). Envolvimento craniofacial bilateral foi observado em 48,82% e, unilateral, em 51,18%, estando o lado direito envolvido em 59,49% dos casos. Microtia do tipo III estava presente em 57,11% e do tipo II, em 36,01%. Dentre as anomalias estruturais de orelha média e/ou interna, o acometimento de orelha média foi o mais frequente, sendo observado em 27,91%. Em relação à deficiência auditiva, o tipo condutivo foi o mais frequente, encontrado em 70,42% das orelhas. Dentre as associações de achados clínicos realizadas, observou-se associação estatisticamente significativa entre fissura Tessier 7 e anomalia ocular (incluindo dermóide epibulbar); entre dermóide epibulbar e outras anomalias oculares; entre lateralidade da fissura de lábio com ou sem palato e acometimento craniofacial; entre anomalia de orelha média e microtia tipo III; entre anomalia de orelha interna e microtia tipo II; entre anomalia de orelha média e interna com microtia tipo III; e entre ausência de anomalia de orelha interna e/ou externa e ausência de microtia. Diante dos resultados obtidos, investigação sistemática por imagem de osso temporal, coluna vertebral, costelas e sistema cardíaco deve fazer parte do protocolo de avaliação dos indivíduos com EOAV. / Introduction: The first and second pharyngeal arches contribute to the craniofacial development, and any interference in the normal development of these structures can result in maxilar, mandibular and auricular anomalies. Mandibular hypoplasia, epibulbar dermoids, and vertebral anomalies are the most frequently clinical aspects associated with auricular anomaly, resulting in a condition defined as oculoauriculovertebral spectrum, which is a heterogeneous, variable and complex clinical condition. Objectives: Investigate the clinical findings of individuals with OAVS clinically diagnosed, calculate the frequency of the clinical findings presented in these individuals and establish possible associations among the main clinical findings observed in these series of individuals. Purpose and Methods: Retrospective study of the individuals with OAVS clinically diagnosed. The minimal criteria established for the study was the presence of isolated microtia and/or preauricular tags, associated or not associated with mandibular hypoplasia. The results were analyzed by means of descriptive analyzes, using the absolute (n), relative (%) frequency and verification by means of Qui-square test, with odds ratio calculation and trust interval. Results and Conclusion: Sex ratio 4M:3F; cases of familial recurrence, twinning and consanguinity were observed at 15.56%, 3.85% and 2.22% of the sample, respectively. Pregnancy complications were reported by 15.09% of the mothers. Cytogenetic analysis showed two individuals with structrural anomaly and two with numerical alterations. High frequences were observed mainly in facial asymmetry (96.40%), mandibular hypoplasia (96.40%), microtia (87.40%), vertebral anomalies (77.17%), preauricular tags (60.41%), Tessier 7 cleft (31.62%), epibulbar dermoid (19.02%), cleft lip and/or cleft palate (18.25%), and cleft palate (15.42%). Bilateral craniofacial involvement was observed in 48.82% and unilateral in 51.18%. The right side was involved in 59.49% of the cases. Microtia type III was observed in 57.11% of the ears and type II in 36.01%. Among the structural abnormalities of the middle and/or internal ear, the involvement of middle ear was the most frequent, being observed in 27.91%, regarding that the hearing loss of the conductive type was the most frequent, observed in 70.42% of the ears. Among the clinical associations performed, there was a statistically significant association between Tessier 7 cleft and eye abnormalities (including dermoid epibulbar); between epibulbar dermoid and other eye abnormalities; between the lateral cleft lip with or without palate and craniofacial involvement; between middle ear anomaly and microtia type III; between inner ear anomaly and microtia type II; between middle and inner ear anomaly with microtia type III; and between absence of inner and/or external ear anomaly and absence of microtia. Based on these results, systematic investigation by image of temporal bone, spine, ribs and heart system should be part of the evaluation protocol of individuals with OAVS.

Thesis deals with studying of morphology and variability of palatal shape in patients with hemifacial microsomia. It is congenital facial disorder, manifests in hypoplasia and asymmetry of facial structures. It interfere with part of splanchnocranium,especially manifests at hypoplasia of mandible and facial asymmetry, ears or orbits can be another affects part of the face. For notice morphology of palate was use virtual dental models of superior alveolar arch and palate of patients with HFM. Mean age of patients with HFM was 27,2 years (in range 20,8 - 41,5 years), mean age of control's file was 13,2 years (in range 13,0 - 13,9 years). Every subjects, also from patient's file and from control's file are mens with Czech's nationality. Models were evaluate by methods of geometrics morphometry (DCA, PCA, analysis asymmetry) and multidimensional statistic (Hotteling test, test of homogenity). Palatal shape of patients with HFM and controls is significantly different. Palate of patients with HFM was narrower and shorter in anterior part while wider in posterior lateral part, especially at the left side relative to control's file. We found out by evaluation asymmetry that palate of patients with HFM had the biggest asymmetry at back side of palate, by contrast, the biggest symmetry was at vertical middle line of...

Objetivo: Avaliar, sob o ponto de vista genético-clínico e audiológico, uma amostra de indivíduos com EOAV associado à anomalia radial. Local: Serviço de Genética Clínica, Setor de Fonoaudiologia, Ambulatório de Saúde Pública e Centro de Pesquisas Audiológicas – HRAC – USP. Participantes: 14 indivíduos com EOAV associado à anomalia radial: 8 do sexo masculino e 6 do sexo feminino. Intervenções: Avaliação genética-clínica, avaliação radiológica, avaliação otorrinolaringológica e avaliação audiológica. Resultados: Os principais achados clínicos do EOAV com anomalia radial são malformações de orelha externa, média e interna; assimetria facial; hipoplasia mandibular e defeito radial, o qual é uma anomalia “sine qua non" para o diagnóstico clínico. Anomalias de orelha interna e perda auditiva sensorioneural representam achados relevantes desta condição. Outros sistemas podem, também, estar acometidos. Conclusões: O EOAV com anomalia radial representa uma síndrome de padrão de recorrência, de etiologia desconhecida, que cursa com anomalias de arcos branquiais, defeito radial e perda auditiva, principalmente sensorioneural. Considerando que alguns casos com EOAV associado à anomalia radial foram descritos em mães com história de diabetes, atenção especial deve ser dada ao controle da glicemia materna. / Objective: Clinical genetic and audiological aspects evaluation of patients with first and second branchial arches abnormalities associated with radial defects. Setting: Clinical genetic service, Speech pathology/audiology sector, Specialized Public Health Clinic and Center for Audiological Research – HRAC – USP. Participants: 14 Brazilian patients with oculoauriculovertebral spectrum with radial defects: 8 male and 6 female. Interventions: Clinical genetic, radiological, otorhinolaryngological and audiological evaluation. Results: The main clinical sings present in these condition include external, middle and inner ear malformations; facial asymmetry, mandible hypoplasia and radial defects, which is a “sine qua non" anomaly for clinical diagnosis. Inner ear malformation and sensorioneural hearing loss are relevant signs related to this condition. Other systems can be involved. Conclusions: The oculoauriculovertebrall spectrum (OAVS) with radial defects represents a recurrent pattern syndrome, of unknown etiology, that presents branchial arches anomalies, radial defects, and hearing loss, mainly sensorioneural type. Considering that some few cases with OAVS and radial defects were reported in mothers with history of diabetes, special attention can be done to maternal glicemia.

Objetivo: Avaliar, sob o ponto de vista genético-clínico e audiológico, uma amostra de indivíduos com EOAV associado à anomalia radial. Local: Serviço de Genética Clínica, Setor de Fonoaudiologia, Ambulatório de Saúde Pública e Centro de Pesquisas Audiológicas – HRAC – USP. Participantes: 14 indivíduos com EOAV associado à anomalia radial: 8 do sexo masculino e 6 do sexo feminino. Intervenções: Avaliação genética-clínica, avaliação radiológica, avaliação otorrinolaringológica e avaliação audiológica. Resultados: Os principais achados clínicos do EOAV com anomalia radial são malformações de orelha externa, média e interna; assimetria facial; hipoplasia mandibular e defeito radial, o qual é uma anomalia “sine qua non” para o diagnóstico clínico. Anomalias de orelha interna e perda auditiva sensorioneural representam achados relevantes desta condição. Outros sistemas podem, também, estar acometidos. Conclusões: O EOAV com anomalia radial representa uma síndrome de padrão de recorrência, de etiologia desconhecida, que cursa com anomalias de arcos branquiais, defeito radial e perda auditiva, principalmente sensorioneural. Considerando que alguns casos com EOAV associado à anomalia radial foram descritos em mães com história de diabetes, atenção especial deve ser dada ao controle da glicemia materna. / Objective: Clinical genetic and audiological aspects evaluation of patients with first and second branchial arches abnormalities associated with radial defects. Setting: Clinical genetic service, Speech pathology/audiology sector, Specialized Public Health Clinic and Center for Audiological Research – HRAC – USP. Participants: 14 Brazilian patients with oculoauriculovertebral spectrum with radial defects: 8 male and 6 female. Interventions: Clinical genetic, radiological, otorhinolaryngological and audiological evaluation. Results: The main clinical sings present in these condition include external, middle and inner ear malformations; facial asymmetry, mandible hypoplasia and radial defects, which is a “sine qua non” anomaly for clinical diagnosis. Inner ear malformation and sensorioneural hearing loss are relevant signs related to this condition. Other systems can be involved. Conclusions: The oculoauriculovertebrall spectrum (OAVS) with radial defects represents a recurrent pattern syndrome, of unknown etiology, that presents branchial arches anomalies, radial defects, and hearing loss, mainly sensorioneural type. Considering that some few cases with OAVS and radial defects were reported in mothers with history of diabetes, special attention can be done to maternal glicemia.

Syftet med denna studie var att utvärdera behandling med hjälp av elektropalatografi (EPG) och portabel träningsenhet (PTU) hos en person med kvarstående artikulationsproblem. Försökspersonen var en vuxen man med medfödd hemifacial mikrosomi och mikrognati som tidigare genomfört konventionell talträning. En kvasiexperimentell, prospektiv, kontrollerad single subjekt A-B-A design användes. Försökspersonen hade vid träningsstart en tillbakadragen artikulation av /t/ och /d/ till velart/uvulart artikulationsställe med kvarstående svårighet att göra sitt tal förståeligt för sina samtalspartners.  Behandlingseffekten utvärderades genom instrumentell EPG analys av /t/ i enstaka ord före och efter behandling. Analysen visade signifikanta behandlingsresultat där en fortgående förbättring av produktionen av /t/ i medial och final position skedde även fyra år efter avslutad behandling. Perceptuell lyssnarbedömning av tränade och otränade lyssnare uppvisade signifikant förbättrad skattning av t-likhet av målljudet /t/ i medial och final position över tid. Ett mycket svagt samband sågs mellan perceptuell skattning av t-likhet och de analyserade EPG-värdena. Lyssnarskattningen av spontantalet visade en förbättring av förståelighet vid kontroll 4 år efter avslutad träning. Utvärderingen bekräftar tidigare forskning och visar att talträning med EPG är ett effektivt sätt att ge visuell återkoppling i försök att etablera ett korrekt artikulationsmönster, förbättrat tal och ökad förståelighet. Detta provades i föreliggande studie och även om resultaten inte var entydiga, antyddes att metoden kan vara långsiktigt framgångsrik vid sedan lång tid väl etablerade talavvikelser utan tecken på förändring spontant eller efter tidigare träning utan visuell återkoppling. En viktig erfarenhet är således att planera långsiktigt och invänta automatisering av nya artikulationsrörelser som har lång etableringsfas. Träning med EPG föreslås kunna erbjudas vuxna personer med kvarstående artikulationsavvikelser där konventionell träning inte har kunnat ge önskvärda resultat. Nyckelord: Elektropalatografi, behandlingseffekt, hemifacial mikrosomi, artikulationsstörning, långtidsuppföljning, förståelighet / The aim of this study was to evaluate speech therapy using electropalatography (EPG) and portable training unit (PTU) in a subject with persistent articulation errors. The participant was a male adult with congenital hemifacial microsomia and micrognathia who previously had received conventional speech therapy. The subject had a retracted, velar/ uvular articulation of dental plosives with difficulty making speech understandable to listeners. A quasi-experimental prospective, controlled single-subject ABA design was used. Treatment efficacy was assessed by instrumental EPG analysis of  /t/ in single words before and after treatment and showed significant treatment results with a continuing improvement in the production of  /t/ in medial and final position even four years after completion of treatment. Perceptual listen assessment of trained and untrained listeners showed significantly improved estimation of the target /t/ in medial and final position over time. A very weak association was found between the perceptual estimation of t-likeness and the analyzed EPG values. Listener rating of spontaneous speech showed an improvement in intelligibility 4 years after completing training. The evaluation confirms previous research showing that speech therapy with EPG seems effective for providing visual feedback in the attempt to establish a correct articulation pattern, improved speech and enhanced intelligibility. This was investigated in the present study and although the results were not unambiguous, it was indicated that the method can be successful at long persisting well established articulation errors without signs of spontaneous change or after previous training without visual feedback. An important experience is to plan long term and wait for the automation of the new articulation movements that have a long establishment phase. Training with EPG is proposed to be offered to adults with persistent articulation disorders for which conventional therapy has been unable to provide desirable results. Keywords:  Electropalatography, treatment effect, hemifacial microsomia, articulation disorder, long- term follow- up, intelligibility