Estudos investigativos sobre a influência da hereditariedade nas fissuras orofaciais têm sugerido que indivíduos não-afetados com filhos portadores de fissura labiopalatina apresentam morfologia craniofacial distinta da população geral. O objetivo desta pesquisa foi, por meio de antropometria direta da face, estudar as dimensões faciais dos pais de fissurados em relação a indivíduos sem histórico familiar de fissura, com a finalidade de determinar características faciais que possam inferir uma predisposição à fissura. A amostra foi constituída por 244 indivíduos leucodermas, com média de idade de 34,1 anos, sendo 50 pais e 94 mães de crianças com fissura de lábio com ou sem envolvimento do palato, registrados na Faculdade de Odontologia da Universidade de São Paulo, formando o grupo de estudo, que foi subdividido em grupo pais, grupo mães e grupo casal; e 50 homens e 50 mulheres com ausência de história familiar de anomalias craniofaciais, compondo o grupo controle. Após a marcação de pontos antropométricos na face, foram realizadas 38 medidas antropométricas, correspondendo às dimensões faciais de altura, largura e profundidade, com auxílio de paquímetro digital e compasso facial. Para a análise estatística foi utilizado o teste t de Student com correção de Levene para igualdade de variâncias. Os resultados estatisticamente significantes, para o grupo pais, foram: largura da testa; largura da face e distâncias inter-orbital interna e externa menores, enquanto que a largura da base do nariz, a altura do perfil inferior e a profundidade da mandíbula do lado esquerdo foram maiores. No grupo mães, a distância pupila-linha média lado direito, a largura da base do nariz, a largura do nariz, a largura anatômica do nariz, a largura da columela, a altura do terço superior da face e a profundidade da mandíbula do lado esquerdo apresentaram-se maiores. Os resultados do grupo casal foram pouco consistentes porque reproduziram os registrados nos subgrupos individuais. Embora diversas medidas tenham mostrado diferenças entre o grupo de estudo e o controle, apenas a largura da base do nariz e a profundidade da mandíbula do lado esquerdo se apresentam com as dimensões aumentadas nas respectivas subdivisões: pais, mães e casal. Concluiu-se que, pais e mães de crianças portadoras de fissuras labiopalatinas apresentam morfologia craniofacial distinta em relação à população geral; entretanto, não foi possível definir um padrão facial característico. / Recent studies concerning the influence of inheritance in orofacial clefts suggest that non-affected parents of children that present cleft lip and palate show distinctive craniofacial morphology compared to the overall population. The main objective of this research was to analyze and compare the facial dimensions of non-affected parents of affected children and individuals with no history of clefting in the family. The method used was the direct facial anthropometry, since it can determine facial characteristics that may be related to predisposition to cleft. The sample used comprised 244 leukoderms, averaging 34,1 years old, registered at the Dentistry School of the University of São Paulo. The sample was divided in study group and control group. The study group was composed of 50 fathers and 94 mothers of children affected by cleft lip and/or palate and was sub-divided in three sub-groups: fathers, mothers and couples. The control group was composed of 50 man and 50 women with no history of craniofacial anomalies. To evaluate the distinctive facial dimensions, a set of 38 anthropometric measurements were made using a sliding caliper and a spreading caliper to determine the length, width and depth. For statistical analysis the Student t test was used with Levene\'s correction for equal variances. The statistically significant results were: - Fathers group: smaller width of the forehead; smaller width of the face; smaller intercanthal width and biocular width as well as larger width of the nasal root, larger height of the lower profile and larger depth of the left lower jaw. - Mothers group: larger pupil-facial midline right distance, larger width of the nasal root, larger width of the nose, larger width between the facial insertion points of the alar base, larger width of the columella, larger height of the upper profile and larger depth of the left lower jaw. For the parents group, no statistical differences were identified, with results similar to the other two study groups. Although several measurements showed differences from the study group to the control group only width of nasal root and depth of the left lower jaw showed bigger dimensions in the three subgroups, fathers, mothers and couples. In conclusion, this study showed that fathers and mothers of children with cleft lip and palate show different craniofacial morphology compared to the overall population, but it was impossible to delineate a pattern.

Objetivo: Avaliar quais fatores são relevantes no desenvolvimento neuropsicológico e de linguagem em pacientes portadores da Síndrome de Crouzon. Modelo: Estudo transversal em pacientes com Síndrome de Crouzon com diagnóstico estabelecido por genética clinica, submetidos a protocolo de avaliação multidisciplinar (avaliação clínica, social, neuropsicológica, fonoaudiológica e neurorradiológica). Local: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo (HRAC-USP), Bauru. Pacientes: Foram selecionados 10 pacientes que preencheram todos os critérios de inclusão. Todos os pacientes eram acompanhados no Ambulatório de Cirurgia Craniofacial do HRAC-USP, e foram submetidos a avaliação clínica, perfil sócio-econômico, avaliação neuropsicológica, avaliação fonoaudiológica, questionário de qualidade de vida familiar e ressonância magnética encefálica. Resultados: Houve correlação estatisticamente significante entre o desenvolvimento neuropsicológico e o diagnóstico fonoaudiológico (p=0,003). Entretanto, fatores como a realização de cirurgia craniana, alterações encontradas em neuroimagem, aspectos sócio-econômicos e qualidade de vida familiar não influenciaram no desenvolvimento neuropsicológico e de linguagem. Em relação à qualidade de vida, houve predomínio do fator 2 (pessimismo) do questionário de recursos e estresse simplificado. Conclusões: Na amostra estudada, existiu correlação entre o desenvolvimento neuropsicológico e de linguagem. / Objective: To evaluate relevant factors to the neuropsychological development and language acquisition in patients with Crouzon syndrome. Model: Transversal study of patients with Crouzon syndrome diagnosed by clinical genetics examination, who underwent a multidisciplinary team assessment (craniofacial, socioeconomic, neuroradiological, neuropsychological and language evaluations). Setting: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo (HRAC-USP), Bauru. Participants: Ten patients with Crouzon syndrome accompanied by the craniofacial surgery team of the HRAC-USP, who fulfilled all the inclusion criteria, and underwent clinical, socioeconomic, neuropsychological, language, quality of life and neuroradiological (brain magnetic resonance imaging) assessments. Results: Neuropsychological development and language performance had a statistically significant correlation (p=0,003). However, variables as craniofacial surgery, neuroimaging abnormalities, socioeconomic and quality of life findings did not show any relationship with either neuropsychological or language development. Regarding to quality of life, there was a higher prevalence of pessimism (factor II of the short form of the questionnaire on resources and stress). Conclusions: In the present study, we found a correlation between neuropsychological development and language acquisition.

Introdução: A DMF tipo Bauru (OMIM 604830 é uma condição genética caracterizada por hipoplasia malar, fissura orofacial, micrognatia, fendas palpebrais inclinadas para baixo e anomalia auricular. Herança autossômica dominante tem sido sugerida. Até o momento, seis casos com DMF tipo Bauru tem sido relatados e, ainda, pouco se conhece sobre os aspectos clínicos e radiológicos dessa condição. Objetivos: refinar o fenótipo da síndrome disostose mandibulofacial tipo Bauru; caracterizar clinicamente uma amostra de indivíduos com DMF tipo Bauru; investigar e caracterizar as alterações de mandíbula, maxila, arco zigomático e côndilo mandibular, presentes na amostra, por meio de avaliação radiológica. Pacientes estudados e métodos: foram incluídos neste estudo 11 indivíduos com diagnóstico clínico de DMF tipo Bauru. Todos os indivíduos foram submetidos à avaliação genético-clínica e, aqueles que ainda não tinham realizado TC foram submetidos à TC cone beam de face ou telerradiografia, dependendo da idade. As imagens de TC cone beam foram reconstruídas em terceira dimensão (3D) e obtidas telerradiografias em norma lateral, de face completa. Resultados: todos os indivíduos foram do gênero feminino. Levantamento da história familial foi observada em duas famílias, uma com padrão sugestivo de herança autossômica dominante e outra, sugestivo de herança autossômica recessiva Os principais achados clínicos incluíram frontal curto (63,6%), estreitamento bitemporal (90,9%), fácies alongado (63,6%), sobrancelhas arqueadas (90,9%), pálpebras superiores inclinadas para baixo (90,9%), ponte nasal alta (90,9%), hipoplasia de face média (100%), lábio inferior grosso e evertido (72,7%), micrognatia (100%), orelhas pequenas (54,5%), implantação baixa de orelhas (72,7%), orelhas posteriormente rodadas (81,8%), tragus hipoplásico (72,7%), lobo hipoplásico (72,7%) e perda auditiva condutiva (100%). A TC cone beam foi realizada em 8 dos 11 indivíduos e os principais achados observados na análise morfológica foram: assimetria facial (87,5%), órbitas assimétricas (100%), arco zigomático inclinado para baixo (100%), hipoplasia de maxila (100%), cavidade glenóide hipoplásica (62,5%), côndilos mandibulares hipoplásicos (75%), processo coronóide anômalo (37%), profundidade da incisura da mandíbula reduzida (62,5%), assimetria mandibular (100%), micrognatia e retrognatia (100%), meato acústico externo atópico (100%). Análise cefalométrica mostrou padrão de crescimento vertical (87,5%), dimensão da maxila reduzida (60%), mandíbula pequena (100%), ramo mandibular curto (100%), altura facial total reduzida (50%), altura facial ântero-inferior aumentada (70%). Conclusões: o padrão facial típico da DMF tipo Bauru incluiu: frontal curto, pálpebras superiores inclinadas para baixo, ponte nasal alta, hipoplasia de face média e de região zigomática, fissura orofacial, lábio inferior grosso e evertido e micrognatia acentuada. Radiograficamente é caracterizada por arco zigomático inclinado para baixo, hipoplasia de maxila, micrognatia e retrognatia, assimetria mandibular, ramo mandibular curto bilateralmente, altura facial reduzida, relação maxilomandibular deficiente, altura facial total reduzida, base anterior do crânio curto, altura facial ântero-inferior aumentada, cavidade glenóide hipoplásica, côndilos mandibulares hipoplásicos e meato acústico externo atópico. Há desvio da razão sexual para gênero feminino e a etiologia é genética com provável heterogeneidade. As alterações radiográficas são compatíveis com o observado em outras DMFs e podem auxiliar no diagnóstico diferencial. Ramo mandibular curto difere a DMF tipo Bauru da Sequência de Robin. / Introduction: The MFD Bauru type (OMIM 604830) is a genetics condition characterized by malar bone hypoplasia, orofacial cleft, micrognathia, downslanting palpebral fissure and auricular anomalies. Dominant autosomal inheritance has been suggested. Up to now, six cases of MFD Bauru type have been reported and yet, it is known very little about the clinical and radiologic aspects of this condition. Purpose: refine the DMF Bauru type syndrome phenotype; clinically characterize the mandible alterations from the MFD type Bauru individuals; investigate and characterize the mandible, maxilla, zigomatic arch and mandibular condyle alterations, presented on the sample, using the radiological evaluation. Studied patients and methods: 11 subjects were included on this study with the clinical diagnosis of MFD type Bauru. All the subjects were submitted to genetics and clinical assessment and, those that have not been submitted to CT Scanning were submitted to face CT cone beam or teleradiography, depending on the age. The CT cone beam images were reconstructed in third dimension (3D) and teleradiography obtained in lateral standard. Results: all the subjects were from the female gender. Recurrence was observed in two families, one with suggestive dominant autosomal inheritance and the other suggestive recessive autosomal inheritance. The main clinical finds included narrow forehead (63.6%), bitemporal narrow (90.0%), long face (63.6%), arched eyebrow (90.9%), upper eyelid inclined down (90.9%), high nasal bridge (90.9%), midface hypoplasia (100%), thick and everted lower lip (72.7%), micrognathia (100%), small ears (54.5%), low set ears (72.7%), posterior rotated ears (81.8%), hypoplastic tragus (72.7%), hypoplastic lobe (72.7%) and conductive hearing loss (100%). The CT cone beam was realized in 8 from the 11 subjects and the main finds observed on the morphological analyses were: facial asymmetry (87.5%), asymmetrical orbits (100%), zygomatic arch inclined down (100%), maxilla hypoplasia (100%), hypoplastic glenoid cavity (62.5%), hypoplastic mandibular condyle (75%), anomalous coronoid process (37%), reduced depth of the mandibular incision (62.5%), mandibular asymmetry (100%), micrognathia and retrognathia (100%), atopic external acoustic meatus (100%). The cefalometric analyses showed vertical growing pattern (87.5%), reduced maxilla dimension (60%), small mandible (100%), short madibular ramus (100%), total facial height reduced (50%), antero-inferior facial height increased (70%). Conclusions: the typical facial of the MFD Bauru type includes: narrow forehead, upper eyelids inclined down, high nasal bridge, midface and zygomatic region hypoplasia, orofacial cleft, lower lip thick and lay down and accentuated micrognathia. Radiographically it is characterized by the zygomatic arch inclined downs, maxilla hypoplasia, micrognathia and retrognathia, mandible asymmetry, bilaterally shorten mandibular ramus, reduced facial height, deficient maxilomadibular relation, total facial height reduced, shorten cranium anterior base, antero-inferior facial height increased, hypoplastic glenoid cavity, hypoplastic mandibular condyle and atopic external acoustic meatus. There is deviation of sexual rate for female gender. The etiology is genetic with probable genetic heterogeneity. The radiographic alterations were similar with those observed in other MFDs and may help on the differential diagnosis. The short mandibular ramus differ the MFD Bauru type from the Robin Sequence.

Introdução: as disostoses mandibulofaciais representam um grupo de condições geneticamente heterogêneas, caracterizado principalmente por hipoplasia de arco zigomático, hipoplasia mandibular e anomalias de orelhas. Objetivos: caracterizar a morfologia craniofacial de diferentes tipos de disostose mandibulofacial e investigar as alterações de mandíbula, maxila, arco zigomático e côndilo mandibular, meio de avaliação radiológica. Casuística e métodos: fizeram parte deste estudo 54 indivíduos (sendo 25 do sexo feminino e 13 do sexo masculino), com diagnóstico de disostose mandibulofacial definido por profissionais da Seção de Genética Clínica e Biologia Molecular do Hospital de Reabilitação de Anomalias Craniofaciais. Os indivíduos foram submetidos à atualização dos dados genético-clínicos e avaliação radiológica, por meio de tomografia computadorizada (helicoidal ou de feixe cônico). Para a análise morfológica, as imagens adquiridas foram reconstruídas em terceira dimensão e as estruturas craniofaciais segmentadas no software Mimics para auxiliar na descrição das alterações no arco zigomático, maxila e mandíbula A análise dos dados clínicos e morfológicos foi descritiva e em forma de tabela. Resultados: trinta e dois tinham diagnóstico genético-clínico de síndrome de Treacher-Collins, sete de disostose mandibulofacial tipo Bauru, quatro de disostose mandibulofacial tipo Guion-Almeida, um de disostose mandibulofacial com alopecia e dez de disostose mandibulofacial a esclarecer. A análise morfológica mostrou hipoplasia de osso e arco zigomático, maxila e mandíbula em todos os indivíduos avaliados e com alta variabilidade fenotípica. No entanto, os indivíduos com síndrome de Treacher Collins apresentaram um espectro fenotípico mais grave, foram observadas fissuras ósseas de Tessier número 6, 7 e 8, alterações nos côndilos mandibulares, processos coronoides, ramo e corpo mandibular. A disostose mandibulofacial com alopecia mostrou agenesia da porção temporal do arco zigomático, fissura óssea de Tessier número 8 (processo zigomático do osso temporal), mandíbula hipoplásica e assimétrica mandibular, os côndilos foram largos e os processos coronoides hipoplásicos. Na disostose mandibulofacial tipo Guion-Almeida foi observado fissura óssea de Tessier número 7, assimetria de face, hipoplasia mandibular com alterações de côndilo e anomalia de processo coronoide, a disostose mandibulofacial tipo Bauru apresentou uma hipoplasia de maxila bem acentuada com arco zigomático fino e hipoplásico, hipoplasia mandibular, côndilos hipoplásicos e alterações no processo coronoide e os casos com disostose mandibulofacial a esclarecer apresentaram hipoplasia de face média e mandíbula de grau variável e três casos apresentaram alterações esqueléticas, um caso sugere síndrome cerebrocostomandibular, um caso sobrepõe síndrome de Treacher Collins, dois casos sobrepõem os sinais clínicos de disostose mandibulofacial tipo Guion-Almeida e os outros três casos permanecem não esclarecidos. Conclusão: os achados na síndrome de Treacher Collins são mais graves dentro do grupo e os achados radiológicos da disostose mandibulofacial tipo Guion-Almeida sobrepõem aos observados na síndrome de Treacher Collins, os achados na disostose mandibulofacial tipo Bauru são mais leves que os outros grupos e a disostose mandibulofacial com alopecia apresenta um fenótipo peculiar e para os casos de disostose mandibulofacial não esclarecidos, a análise molecular é necessária para auxiliar no diagnóstico / Introduction: Mandibulofacial dysostoses are a genetically heterogeneous group of conditions characterized mainly by hypoplasia of the zygomatic arch, mandibular hypoplasia and ear anomalies. Purpose: Characterize the craniofacial morphology of different types of mandibulofacial dysostosis and investigate the anomalies in zygomatic arch, mandible, maxilla and mandibular condyle, by means of radiological evaluation. Methods: This study included 54 patients (with 25 female and 13 male) diagnosed with mandibulofacial dysostosis defined by professionals from Clinical Genetics Section and Molecular Biology by Hospital for Rehabilitation of Craniofacial Anomalies. The subjects underwent updating of clinical genetic and radiological evaluation by computed tomography (helical scan or cone beam). For morphological analysis, the acquired images were reconstructed in three dimensions and craniofacial structures were segmented in the Mimics software to assist in the description of the changes in the zygomatic arch, maxilla and mandible The analysis of clinical and morphological data was descriptive and in table form. Results: Thirty-two had genetic-clinical diagnosis of Treacher-Collins syndrome, 7 dysostosis mandibulofacial type Bauru, 4 dysostosis mandibulofacial Guion-Almeida type, 1 dysostosis mandibulofacial with alopecia and 10 with dysostosis mandibulofacial not defined.Morphological analysis showed hypoplasia of bone and zygomatic arch, maxilla and mandible in all evaluated individuals with high phenotypic variability. However, individuals with Treacher Collins syndrome presented in a more severe phenotype spectrum, Tessier cleft number were observed 6, 7 and 8, changes in mandibular condyles coronoides processes and mandibular ramus and body. The mandibulofacial dysostosis with alopecia showed agenesis of the temporal portion of the zygomatic arch, Tessier cleft number 8 (zygomatic process of the temporal bone), mandible hypoplastic and asymmetric, the condyles were broad and coronoides process hypoplastic. Mandibulofacial dysostosis Guion-Almeida type showed Tessier cleft number 7, facial asymmetry, mandibular hypoplasia with changes of condyle and coronoid process of anomaly, the mandibulofacial dysostosis type Bauru showed a well marked mandible hypoplasia with zygomatic arch hypoplastic and thin, mandibular hypoplasia, hypoplastic condyles and changes in the coronoid process and the cases with mandibulofacial dysostosis not defined had hypoplastic midface and varying degree of mandible and three cases showed skeletal changes, one case suggests cerebrocostomandibular syndrome, one case overlaps Treacher Collins syndrome, two cases overlapping clinical signs of dysostosis mandibulofacial Guion Almeida-type and the other three cases remain unclear. Conclusion: the radiological findings in Treacher Collins syndrome were more severe in the groups The radiological findings of mandibulofacial dysostosis Guion-Almeida type overlap those observed in Treacher Collins syndrome, the findings in mandibulofacial dysostosis Bauru type were lighter than the other groups and mandibulofacial dysostosis with alopecia presents a peculiar phenotype and for cases of dysostosis mandibulofacial not defined, molecular analysis is needed to aid in the diagnosis

Esta pesquisa teve dois objetivos: 1) Comparar as características craniofaciais entre crianças portadoras de perfil tegumentar do terço facial inferior equilibrado com tendência reta com crianças portadoras de perfil tegumentar do terço facial inferior equilibrado com tendêcia convexa; 2) Verificar a variabilidade entre as combinações dos componentes morfológicos na conformação craniofacial deste indivíduos. A amostra constou de 48 telerradiografias em norma lateral, de crianças leucodermas brasileiras, 24 do gênero feminino e 24 do masculino, portadoras de oclusão dentária normal, face equilibrada, lábios competentes,sem tratamento ortodôntico prévio, com dentadura mista, abrangendo faixa etária dos 7 aos 10 anos de idade. A amostra foi dividida em 2 grupos de 24 indivíduos, com igual número de componentes entre os gêneros feminino e masculino. O grupo I foi composto por indivíduos que exibiram perfil tegumentar do terço facial inferior equilibrado com tendência reta, enquanto o grupo II foi constituído por indivíduos que apresentaram perfil tegumentar do terço facial inferior equilibrado com tendência convexa. Foram utilizadas grandezas cefalométricas angulares e proporcionais para a descrição das características craniofaciais. Após a análise estatística e a interpretação dos resultados obtidos, concluiu-se que existem semelhanças morfológicas entre os grupos I e II na inclinação da base craniana posterior, ângulo goníaco; altura facial anterior, altura do ramo mandibular, altura alveolar superior e no posicionamento ântero-posterior da região posterior da maxila. Ocorreram diferenças morfológicas estatisticamente significativas nas inclinações do ramo mandibular, corpo mandibular, incisivos superiores, incisivos inferiores e, ainda, na altura facial posterior total, altura craniana posterior, altura total da face média, altura orbitária, altura maxilar basal, altura dentoalveolar inferior, largura do ramo mandibular, comprimento do corpo mandibular, posição ântero-posterior do primeiro molar superior na face média e espessura de tecidos moles na região do mento. A elevada variabilidade nas combinações entre os componentes craniofaciais, evidenciou a inexistência de padrões morfológicos específicos, tanto para o grupo de indivíduos portadores de perfil tegumentar reto como para o grupo de perfil tegumentar convexo. A hipótese de obtenção de grupos homogêneos, utilizando-se como critério de seleção a convexidade do perfil tegumentar, foi rejeitada. / This study had 2 different purposes: 1) Compare the craniofacial characteristics among children with soft tissue profile with a balanced inferior third and a straight tendency with children with a soft tissue profile with a balanced inferior third and a convex tendency; 2) verify the variability among the combinations of the morphologic components in the craniofacial conformation of those individuals. The sample was composed of 48 telerradiographs in lateral position of Caucasian Brazilian children, 24 boys and 24 girls, with normal dental occlusion, balanced face, competent lips, without previous orthodontic treatment, with a mixed dentition and age between 7 to 10 years old. The sample was divided in 2 groups of 24 individuals with equal number of both genders. Group I was composed of individuals that showed a soft tissue profile with a balanced inferior third and a straight tendency, and group II was composed of individuals with a soft tissue profile with balanced inferior third and a convex tendency. For this work, angular and proportional cephalometric variables to describe the craniofacial characteristics were used. After the statistical analysis and interpretation of the results, it was concluded that morphologic similarity was found between the groups I and II in the inclination of the posterior cranial base, gonial angle, anterior facial height, mandibular ramus height, alveolar superior height, and in the anteroposterior placement of the posterior region of the maxilla. Significant morphologic differences were found in the inclination of the mandibular ramus, mandibular body, upper and lower incisors, and in the total posterior facial height, cranial posterior height, total height of the medium face, orbital height, maxilla basal height, inferior dentoalveolar height, mandibular ramus wideness, mandibular ramus length, anteroposterior position of the first upper molar in the medium face and the thickness of the soft tissue in the pogoniun region. The high variability of combinations among the craniofacial components showed the nonexistence of specific morphological patterns for the children with a soft tissue profile with a balanced inferior third and a straight tendency and those with a convex tendency. The hypothesis to obtain homogeneous groups using the convexity of the soft tissue profile as selection criteria was rejected.

Positive identification can be problematic if fingerprinting, DNA, dental history, etc. are no longer available. This may be possible through techniques such as facial approximation, but any form of craniofacial identification requires intimate knowledge of human craniofacial anatomy. Where children are involved, craniofacial changes due to facial growth further complicate matters and require knowledge of tissue thickness and variation in facial shapes. These have hardly been studied in children of African descent. The aims of this study were to provide data on tissue thickness and craniofacial proportions of South African Black and Coloured children and to document the lateral profile shape changes between the ages of 6 and 13 years. Tissue thickness was measured using cephalograms of South African children (n = 388). After digitizing the images, tissue thickness measurements were taken at 11 mid-facial landmarks from each image using the iTEM measuring program. Craniofacial proportions were assessed through assessing standardized anterior and lateral facial photographs of 1749 children. Measurements of facial features were taken using iTEM, from which 28 standard facial indices were calculated. For both tissue thickness and craniofacial indices comparisons between groups per age, sex and ancestry were statistically analyzed. In addition, geometric morphometrics were used to describe lateral facial shape changes and differences age, sex and ancestry (n = 800). The results showed that tissue thickness differences at lower face landmarks are more pronounced in age groups per ancestry as opposed to differences per age and sex. Facial profile per facial shape, class and ancestry showed differences at all landmarks. Craniofacial indices indicated that Coloured children have wider heads, foreheads and faces compared to Black children. The height of the nose and lower lip is longer in Coloured children compared to Black children. In Coloured children, mandibular height and lower face height is shorter in relation to total face height. Males have wider heads, foreheads, mandibles and faces compared to females. The degree of prognathism is dictated by ancestry and to a lesser extent by age and sex as findings showed that maxillary prognathism was more prominent in Black children, while mandibular prognathism were more pronounced in male children. South Africans have a relative concave lateral facial profile due to the maxilla and mandible being more prognathic than in North American children. Differences in lateral face shape between children of various ages, sexes and ancestral groups were visualized through the relative displacement of landmarks related to the forehead and lower face. The resultant differences in lateral facial profile can assist in more accurate estimation of age and ancestry of unknown children. This research created reference datasets for tissue thickness and craniofacial indices of South African children of Black and Coloured ancestry per age and sex that will be useful in the diagnosis of facial dysmorphology and for facial reconstruction / approximation of juvenile remains. It also shed more light on facial growth patterns in the various groups. / Thesis (PhD)--University of Pretoria, 2015. / tm2015 / Anatomy / PhD / Unrestricted

京都大学 / 0048 / 新制・課程博士 / 博士(医学) / 甲第20754号 / 医博第4284号 / 新制||医||1024(附属図書館) / 京都大学大学院医学研究科医学専攻 / (主査)教授 松田 秀一, 教授 開 祐司, 教授 妻木 範行 / 学位規則第4条第1項該当 / Doctor of Medical Science / Kyoto University / DFAM

Introduction: The Modified Mallampati Tongue score is a quick and reliable method commonly used in anesthesiology to assess airway patency and predict the ease of intubation. Modified Mallampati Tongue scores range from I – IV with higher Mallampati scores being associated with more difficult intubations as well as increased sleep-disordered breathing, such as obstructive sleep apnea. The Mallampati Tongue score is determined by visibility of the oropharynx when the mouth is opened as wide as possible with the tongue maximally protruded and is directly affected by the position of the tongue. The tongue is an influential muscle to the craniofacial complex; it plays an essential role in the development of the dentoalveolar structures, and its position affects airway volume which influences natural head posture, which influences craniofacial growth. Objective: The primary aims of this study were to identify if any associations exist between Modified Mallampati Tongue scores (I-IV) and 1) craniofacial sagittal and vertical relationships of the jaws and 2) craniofacial head posture (including the postural relationships of the cervical vertebrae, hyoid bone, cranium, and tongue). A secondary aim was to identify if any associations exist between Modified Mallampati Tongue score and age, sex, or race/ethnicity. Methods: This retrospective study included 400 subjects from the Temple University Kornberg School of Dentistry Department of orthodontics who had pre-orthodontic treatment diagnostic records obtained from June 1st 2020 through September 1st 2021. Each patient’s Modified Mallampati Tongue score (I-IV) was recorded in an intraoral photograph of maximum mouth opening with tongue protrusion. All lateral cephalograms were traced in Dolphin Imaging and Amira Morphometrics Software by two examiners tracing 200 subjects each. The craniofacial morphological features were analyzed through the Steiner, Wits, and McNamara analyses for assessment of the sagittal relationships of the maxilla and mandible and by the Jarabak analysis for assessment of the vertical relationships and divergence. Craniofacial head posture was assessed through an analysis that represents the postural relationships of the cervical vertebrae, cranium, length/height of the tongue, and position of the hyoid bone. For statistical analysis, One-way ANOVA, Pearson’s correlation, and Chi-square tests were conducted. Probability values of <0.05 were considered significant. Results: Overall, this study included 400 subjects with ages ranging from 7-73 years old (mean age of 17.99 years), of which there were 288 females (72%) and 112 males (28%). Of the 400 subjects, 60% (241) were African American, 32% (127) Hispanic, 7% (26) Caucasian, and 2% (6) Asian. The most prevalent Modified Mallampati Tongue Score was III (142 subjects, 36%). Out of all of the craniofacial morphology and head posture variables compared against Modified Mallampati Tongue scores (I-IV), significant findings from the one-way ANOVA tests included vertical position of the hyoid bone to the neck, vertical position of the hyoid bone to the mandible, ANB, and Wits values. Higher Mallampati Tongue scores were associated with higher ANB and higher Wits values. Greater Mallampati scores were associated with increased vertical distance of the hyoid bone to the mandible and to the neck, meaning a lower position of the hyoid bone. In addition, correlations that were statistically significant given a 95% confidence interval, included significant positive correlations between Mallampati Tongue score and increased ANB, Wits, and distance of the hyoid to the mandible and to the neck. Pearson’s Correlation Index also showed a significant negative correlation between Mallampati Tongue scores and craniofacial morphology values for SNB and pogonion to nasion-perpendicular, showing that increased Modified Mallampati Tongue scores correlate with more retrognathic mandibles. When evaluating the results of the Chi-Square analyses, there were no significant differences between Modified Mallampati Tongue score and race/ethnicity or age, but there was a significant difference between genders showing that women were more likely to have lower Mallampati Tongue scores than men. Inter-examiner and intra-examiner reliability for the craniofacial head posture measurements, craniofacial morphology measurements, and Modified Mallampati Tongue scores were excellent (correlation coefficients: 0.84 – 0.99). Conclusions: This study reveals that a higher Modified Mallampati Tongue score correlates with higher ANB and Wits values, meaning that higher Modified Mallampati Tongue scores are associated with a Skeletal Class II relationship of the jaws, which could be due to retrognathic mandibular growth. In addition, a higher Modified Mallampati Tongue score is significantly associated with increased distance of the hyoid bone to the mandible and to the neck. This study also found women more likely to have lower Modified Mallampati Tongue scores than men. The results of this study allude to the potential for Mallampati Tongue scores to be used as predictors of Class II skeletal sagittal growth which would ultimately help with orthodontic treatment planning decisions and enhance overall treatment outcomes. / Oral Biology

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PhD, Faculty of Health Sciences, University of the Witwatersrand / While ethanol is recognised beyond doubt as a teratogen to the unborn fetus, research nevertheless continues in order to understand its mode of action and its effects at the cellular level. The present study aimed to investigate the effect of an acute dose of ethanol on cranial morphology and morphometry in mouse fetuses, as well as on the morphology, migration and the expression of cell migration related genes in cultured chick cranial neural crest cells (cNCCs). Thirteen pregnant C57/BL mice were orally administered with 0.03ml/g of 25% (v/v) ethanol daily on gestational days (GD) 6, 7 and 8. Ten control animals received an identical dose of saline. On GD 18, all mice dams were killed and their fetuses were removed. Fetal morphological observations and crown-rump lengths were evaluated as were mean litter size, survival rate, birth weight and cranial dimensions. Cranial neural crest cells (cNCCs) were cultured from Potchefstroom koek koek stages 8-10 (HH) chick embryo neural tubes either in culture medium (DMEM) to which 0.2%, 0.3% and 0.4% ethanol (v/v) respectively, was added (treated) or in DMEM only (controls). Whole-mount HNK-1 immunocytochemistry was performed on treated and control chick embryos, as was an assay for caspase-dependent apoptosis. Photographs were taken of the cultures and the distance which the neural crest cells migrated from the neural tube at 24 and 48 hrs post-culture was measured. 24-hr time-lapse video microscopy recordings were also made to analyse the migration of the neural crest cells. Rhodamine-phalloidin immunocytochemistry for the actin cytoskeleton and scanning electron microscopy of surface ultrastructure were performed on migrating treated and non-treated cNCCs, as were proliferation assays and quantitative PCR of cNCCs‟ β-actin, Rac 1, Rho B and slug genes. There was a statistically significant increase in fetal reabsorption as well as a significantly reduced fetal survival rate observed in newborn mice fetuses that had been exposed to ethanol in utero compared to control fetuses. Ethanol-exposed mice showed a number of abnormalities, which were not significantly increased over vi controls (p>0.5). Birth weight, crown-rump length and mandibular length were also not significantly different in treated fetuses compared to controls (p>0.5). Treated (0.3%) chick cNCCs migrated over a significantly increased distance at both 24hrs and 48hrs compared to controls (p<0.05) in the axes of migration that were studied. The migratory distances of cNCCs derived from embryonic stage 9 (HH) were markedly affected by treatment with alcohol. The actin cytoskeleton of treated cNCCs showed disorganisation and loss of focal adhesion contacts while Rac 1, Rho B and slug genes were either up-regulated or down-regulated depending on the ethanol dose and duration of treatment. Ethanol promotes significant proliferation in cNCCs and may affect their migration by altering the expression of migration-linked genes and the arrangement of the actin cytoskeleton.