Thesis (Ph. D.)--Virginia Commonwealth University, 2006. / Prepared for: Dept. of Human Genetics. Bibliography: leaves 111-135.

Orientador: Vera Lucia Gil da Silva Lopes / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas / Made available in DSpace on 2018-08-10T12:58:59Z (GMT). No. of bitstreams: 1 Simioni_Milena_M.pdf: 1760732 bytes, checksum: daa025a27c5eb01a26a41f7ac8dc50ba (MD5) Previous issue date: 2008 / Resumo: Os Defeitos de Linha Média Facial com Hipertelorismo (DLMFH) constituem um grupo de anomalias craniofaciais raras e heterogêneas caracterizado por hipertelorismo ocular e fenda nasal mediana e (ou) lateral. Esses defeitos podem ocorrer isoladamente ou associados a dismorfismos com ou sem padrão definido, motivo pelo qual sua incidência não foi estabelecida até o momento. Dentre os fatores que podem participar da sua gênese encontra-se a perda de controle de genes de desenvolvimento envolvidos no processo de formação facial. A microdeleção 22q11.2, região dos genes HIRA/TUPLE1 e TBX1, causa a Síndrome Velocardiofacial e a Seqüência de DiGeorge. Essa deleção também foi descrita em casos esporádicos de anomalias congênitas múltiplas e DLMFH. Esses fatos, corroborados por extensa revisão da literatura, sugerem que os DLMFH possam fazer parte do espectro dessas condições clínicas e estarem associados a alterações na região 22q11.2. Para estudar essa hipótese, 10 indivíduos com DLMFH foram analisados por meio da técnica de FISH, utilizando a sonda comercial 22q11.2 DiGeorge ¿ HIRA/TUPLE1 locus (VysisTM). Não foi encontrada perda de fragmento cromossômico nessa região em nenhum dos indivíduos analisados. Os genes HIRA/TUPLE1 e TBX1 foram estudados por meio de técnicas moleculares. Não foi possível realizar a padronização da amplificação dos exons do gene HIRA/TUPLE1. Alterações de seqüência no gene TBX1, descritas como polimorfismos de nucleotídeo único e uma alteração inédita no exon 9C, 1132G ? A, foram encontradas. Em vista do tamanho amostral e da heterogeneidade clínica e etiológica, o presente trabalho não pode relacionar o envolvimento da região 22q11.2 na patogenia dos DLMFH / Abstract: Midline Facial Defects with Hipertelorism (MFDH) is a rare and heterogeneous group of craniofacial disorders characterized by ocular hypertelorism and bifid nose. This group of craniofacial defects occurs isolated or as part of a syndrome. For these reasons, its prevalence is still unknown. Alterations in developmental genes involved in facial process could be implicated in the genesis of this condition. The 22q11.2 microdeletion, localization of the HIRA/TUPLE1 and TBX1 genes, causes Velocardiofacial Syndrome and DiGeorge Syndrome. This deletion was also described in few cases of multiple congenital anomalies and MFDH. These facts suggested that some cases of MFDH may be part of the spectrum of these conditions and associated to alterations in the 22q11.2 region. In order to verify this hypothesis, fluorescent in situ hybridization (FISH) for 22q11.2 region (DiGeorge ¿ HIRA/TUPLE1 locus probe, VysisTM) was performed on metaphase chromosomes and nuclei of 10 individuals with MFDH. The 22q11.2 deletion was not found in any patient. Molecular techniques were applied in the study of HIRA/TUPLE1 and TBX1 genes. The amplification of HIRA/TUPLE1 exons was not possible to be realized. Alterations in the sequence of TBX1 gene, classified as single nucleotide polymorphism and a new alteration in exon 9C, 1132G ? A, were found. In view of the size of the sample and the clinical-genetic heterogeneity, we could not associate the involvement of 22q11.2 region in the genesis of MFDH / Mestrado / Ciencias Biomedicas / Mestre em Ciências Médicas

New Zealand Maori and Pacific Island ethnic groups are marking up an increasingly larger proportion of New Zealand�s population. Intercanthal distance (ICD) and management of congenital and acquired deformities of the craniofacial complex. The ICD and IPD have been found to differ to establish these measurements for New zealand Maori and Samoan populations. For New Zealand Maori males the mean ICD was 32.1mm with a standard deviation (SD) of 2.6mm, and the mean IPD was 63.3mm, SD 3.8mm. For New Zealand Maori females the mean ICD was 30.7mm, SD2.7mm and the mean IPD was 60.1mm, SD2.8mm. For Samoan males the mean ICD was 33.9mm, SD2.5mm and the mean IPD 64.5mm, SD3.5mm. For Samoan females the mean ICD was 32.9mm, SD2.3mm and their mean IPD was 61.7mm, SD2.8mm. Consistent with other ethnicities New Zealand Maori and Samoan males have wider values for ICD and IPD than females respectively. New Zealand Maori measurements tend to lie within the normal values established for Caucasian populations, whilst Samoans have larger values.

Over the last decade, physicians have noted a rise in the prevalence of plagiocephaly. This sudden increase combined with the variability in presentation of infant head deformities makes the management of these cases often difficult. Currently, assessment for treatment is solely based largely on subjective determination of the severity of the patients skull malformation. Existing cephalometric techniques, such as external caliper measurements are commonly used, however these technique still contain inaccuracies, due to movement of an infant during measurement, soft tissue compression by the calipers, and lack of precise defined landmarks. (10) Given that no type of normalized measurement exists to identify objectively the severity of a patients skull deformity, the grading and selection of treatment modality has been relegated largely to experienced plastic surgeons and neurosurgeons. We report of a novel measurement that utilizes both CT scan and digital images combined with basic geometry to determine, objectively, the severity of an infants skull deformity, enabling all physicians to better decide what therapeutic intervention to employ.

New Zealand Maori and Pacific Island ethnic groups are marking up an increasingly larger proportion of New Zealand�s population. Intercanthal distance (ICD) and management of congenital and acquired deformities of the craniofacial complex. The ICD and IPD have been found to differ to establish these measurements for New zealand Maori and Samoan populations. For New Zealand Maori males the mean ICD was 32.1mm with a standard deviation (SD) of 2.6mm, and the mean IPD was 63.3mm, SD 3.8mm. For New Zealand Maori females the mean ICD was 30.7mm, SD2.7mm and the mean IPD was 60.1mm, SD2.8mm. For Samoan males the mean ICD was 33.9mm, SD2.5mm and the mean IPD 64.5mm, SD3.5mm. For Samoan females the mean ICD was 32.9mm, SD2.3mm and their mean IPD was 61.7mm, SD2.8mm. Consistent with other ethnicities New Zealand Maori and Samoan males have wider values for ICD and IPD than females respectively. New Zealand Maori measurements tend to lie within the normal values established for Caucasian populations, whilst Samoans have larger values.

Thesis (Ph. D.)--University of Washington, 2007. / Vita. Includes bibliographical references (leaves 83-99).

Thesis (M.S.)--University of Tennessee Health Sciences Center, 2005. / Spine title: Effects of sickle cell disease on growth of the craniofacial complexes. Appendices: leaves 162-414 Bibliography: leaves 145-161.

Abstract The aim of this study was to define distinct craniofacial features in subjects with nonsyndromic cleft lip and palate (CLP) and in subjects with Turner syndrome (TS), and to evaluate the resemblance of these features among their family members. This might help in elucidating if there is a parental contribution to possible predisposing craniofacial features in cleft subjects and to the severity of certain distinct craniofacial features in subjects with X chromosome monosomy. The study population consisted of 29 Costa Rican CLP families including unaffected parents and siblings, and of 71 TS (45,X) subjects and members of their families. Based on lateral and frontal cephalometric analyses, cleft family members were characterized by reduced cranial height and head width, greater interorbital and nasal cavity widths, shorter anterior cranial base and palatal lengths, and shorter total face height compared to control values. With respect to these distinct craniofacial features, there were statistically significant associations in anterior cranial base and palatal length, and head, forehead and outer interorbital width measurements between parents and their children with CLP. The sidedness of the cleft in affected children was related to the asymmetry of the nasal cavity width in their parents. The distinct craniofacial features of the TS subjects, such as short clivus, retrognathic position of mandible, and narrow maxilla at the level of first premolars were related to their mothers' corresponding features. The presence of lateral palatine ridges, which were detected in one third of the TS subjects, was related to the narrowness of the posterior palate rather than to the variation in the tongue position. Distinct craniofacial features segregate in cleft family members. The several significant associations in distinct craniofacial dimensions between parents and children with CLP emphasize the importance of genetic factors in the genesis of nonsyndromic orofacial clefting. The present results support the concept that maternal factors contribute to the degree of deficiency in the growth of the cranial base and to the magnitude of mandibular retrognathism of their daughters with TS. Maternal influences may also modify the width of the palate in TS.

Thesis--University of Turku, Finland, 2001. / Includes bibliographical references.

Thesis--University of Turku, Finland, 2002. / Includes bibliographical references.