Academic literature on the topic 'Craniofacial abnormalities'
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Journal articles on the topic "Craniofacial abnormalities"
Elmsie, Frances V., and William Reardon. "Craniofacial developmental abnormalities." Current Opinion in Neurology 11, no. 2 (April 1998): 103–8. http://dx.doi.org/10.1097/00019052-199804000-00004.
Full textS, Jeelani. "Craniofacial Abnormalities and Syndromes." Journal of Scientific Dentistry 4, no. 2 (2014): 56–61. http://dx.doi.org/10.5005/jsd-4-2-56.
Full textWoolley, Emma J., David Richardson, and Paul May. "Management of craniofacial abnormalities." British Journal of Hospital Medicine 66, no. 7 (July 2005): 405–10. http://dx.doi.org/10.12968/hmed.2005.66.7.18385.
Full textKleintjes, Wayne George. "Craniofacial Abnormalities in Twins at Tygerberg Hospital, Craniofacial Unit." Journal of Craniofacial Surgery 16, no. 1 (January 2005): 169–71. http://dx.doi.org/10.1097/00001665-200501000-00035.
Full textWitsell, David L., John E. Buenting, and Amelia F. Drake. "AIRWAY ABNORMALITIES IN CRANIOFACIAL SYNDROMES." Oral and Maxillofacial Surgery Clinics of North America 7, no. 2 (May 1995): 337–44. http://dx.doi.org/10.1016/s1042-3699(20)30830-x.
Full textMak, Annisa Shui Lam, and Kwok Yin Leung. "Prenatal ultrasonography of craniofacial abnormalities." Ultrasonography 38, no. 1 (January 1, 2019): 13–24. http://dx.doi.org/10.14366/usg.18031.
Full textJohnston, M. C. "Abnormalities of craniofacial development: discussion report." Development 103, Supplement (September 1, 1988): 241–43. http://dx.doi.org/10.1242/dev.103.supplement.241.
Full textRothschild, Michael A. "Craniofacial abnormalities and upper airway obstruction." Current Opinion in Otolaryngology & Head and Neck Surgery 3, no. 1 (December 1995): 396–401. http://dx.doi.org/10.1097/00020840-199512000-00010.
Full textPanthaki, Zubin J., and Milton B. Armstrong. "Hand Abnormalities Associated With Craniofacial Syndromes." Journal of Craniofacial Surgery 14, no. 5 (September 2003): 709–12. http://dx.doi.org/10.1097/00001665-200309000-00020.
Full textMa, Yu, Yali Xu, Yanli Zhang, and Xiaohong Duan. "Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis." International Journal of Molecular Sciences 24, no. 12 (June 20, 2023): 10412. http://dx.doi.org/10.3390/ijms241210412.
Full textDissertations / Theses on the topic "Craniofacial abnormalities"
Simioni, Milena 1983. "Investigação da região 22q11.2 em defeitos de linha media facial com hipertelorismo." [s.n.], 2008. http://repositorio.unicamp.br/jspui/handle/REPOSIP/312229.
Full textDissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas
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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
Howe, Andrew M. "The role of vitamin K in craniofacial development." Thesis, The University of Sydney, 1997. http://hdl.handle.net/2123/4925.
Full textJones, Melissa Taylor Watson. "Adult Discouragement: Parents of Children with Craniofacial Anomaly." Thesis, University of North Texas, 1996. https://digital.library.unt.edu/ark:/67531/metadc278310/.
Full textChan, Kui-ming, and 陳居明. "MT1-MMP in craniofacial development and FGF signaling." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2007. http://hub.hku.hk/bib/B40203645.
Full textEley, Karen A. "Imaging the craniofacial skeleton : is MRI a viable alternative to ionising radiation?" Thesis, University of Oxford, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.711645.
Full textSae-Pang, Jearn Jang, and 彭淦長. "Craniofacial abnormalities in transgenic mice with ectopic expression of the Hoxb-3 gene." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2002. http://hub.hku.hk/bib/B31227818.
Full textCloonan, Yona Keich. "Sleep outcomes in children with craniofacial microsomia /." Thesis, Connect to this title online; UW restricted, 2007. http://hdl.handle.net/1773/10877.
Full textNaidoo, Sudeshi. "Fetal alcohol syndrome in the Western Cape : craniofacial and oral manifestations : a case control study." Thesis, Stellenbosch : Stellenbosch University, 2003. http://hdl.handle.net/10019.1/53425.
Full textENGLISH ABSTRACT: Introduction: Fetal alcohol syndrome (FAS) consists of multi-system abnormalities and is caused by the excessive intake of alcohol during pregnancy. The teratogenic effect of alcohol on the human fetus has now been established beyond reasonable doubt and FAS is the most important human teratogenic condition known today. The syndrome, first described by Lemoine in1968 in the French literature and in the English literature by Jones and Smith in 1973, has since been corroborated by numerous animal and human studies. This study has grown out of several epidemiological, prenatal and infant studies in areas of the Western Cape that are currently being undertaken by the Foundation for Alcohol Related Research (FARR). Preliminary data from studies in Wellington have confirmed that a significant proportion of school-entry children have FAS. The prevalence ofF AS in this community exceeds that for Down syndrome by a factor of30 times. The frequency ofFAS in high-risk populations of the Western Cape is the highest reported anywhere in the world. With this background, and the paucity of FAS literature related to dentistry, the aim of this study was to determine the craniofacial and oral manifestations ofF AS in a sample of school-going children in the Western Cape. Methodology: This study is a descriptive, case-control, cross-sectional study using a random cluster sampling method. On the day of examination, children were weighed, and their height and head circumference were measured. They then had photographs and radiographs taken, followed by an oral examination. For each child, the following information was recorded on the data capture sheet: date of birth, gender, head circumference, weight and height, enamel opacities, dental fluorosis, plaque index, gingival bleeding index, dentition status, oral mucosal lesions and dentofacial anomalies. Results: The total sample of90 children with diagnosed FAS and 90 controls, were matched for age, gender and social class. There were no significant age differences between the two groups (p=0.3363) and the mean ages were 8.9 and 9.1 for the FAS and control groups respectively. Head circumference (HC) differed significantly between the two groups (p
Wong, Yee-man Elaine, and 王怡雯. "Analysis of abnormal craniofacial and ear development of a transgenic mutant with ectopic hoxb3 expression." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B36875028.
Full textAquino, Sibele Nascimento de 1984. "Avaliação de novos polimorfismos nos genes TGFB3, MSX1, MYH9 e JAG2 em pacientes com fissuras lábio-palatinas não-sindrômicas." [s.n.], 2011. http://repositorio.unicamp.br/jspui/handle/REPOSIP/289222.
Full textDissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Odontologia de Piracicaba
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Resumo: Fissuras do lábio e/ou palato (FL/P) representam uma das anomalias congênitas mais comuns em humanos. A etiologia das FL/PNS é complexa e envolve a participação de inúmeros genes e fatores ambientais. Diversos estudos têm investigado genes relacionados a síndromes, que apresentam FL/P em seu espectro clínico, e/ou que são expressos durante o desenvolvimento do lábio e/ou palato. O objetivo deste estudo foi verificar se novos polimorfismos contidos nos genes relacionados ao desenvolvimento do lábio e palato, incluindo TGF?3, MSX1, MYH9 e JAG2, podem contribuir para a etiologia das FL/PNS. Seis regiões polimórficas foram genotipadas por PCR-RFLP (reação em cadeia da polimerase associada à análise de polimorfismo de fragmentos de restrição enzimática) em amostras de DNA proveniente de 367 pacientes com FL/PNS (grupo caso) e de 413 indivíduos não afetados (grupo controle). No grupo caso, 54% foram do gênero masculino e 46% do feminino, com idade média de 19,1 ± 14,9 anos e prevalência de indivíduos feodermas (42,5%) e leucodermas (42%). As fissuras lábio-palatinas (FLP) foram predominantes (54%), seguidas pela fissura labial (FL) (24%) e fissura palatina (FP) (22%). Do total de seis polimorfismos analisados neste estudo, apenas um foi confirmado nessa população: rs1057744 do gene JAG2. Para este locus polimórfico, o alelo A e o genótipo GA foi mais comum, no grupo controle e caso, não sendo encontrada diferença estatística significante. Para esse polimorfismo, a análise em um modo dominante ou recessivo também não mostrou diferenças estatísticas significantes. Assim, demonstrou-se que os polimorfismos rs34019007 e rs4252315, do gene TGF?3, rs62636562, do gene MSX1, rs11549910 e rs11549909, do gene MYH9 não foram confirmados. O polimorfismo rs1057744 do gene JAG2, embora confirmado, não apresentou associação significante com FL/PNS na população avaliada
Abstract: Cleft lip and/or cleft palate (CL/P) is one of the most common congenital anomaly in humans. NSCL/P etiology is complex and involves the participation of numerous genes and environmental factors. Several studies have investigated genes related to syndromes that have CL/P in their clinical and/or which are expressed during the development of lip and palate. The aim of this study was to determine whether polymorphisms contained genes related to the development of lip and/or palate, including TGF?3, MSX1, MYH9 and JAG2 can contribute to the etiology of NSCL/P. Six polymorphic regions were genotyped by PCR-RFLP (restriction fragment length polymorphism-polymerase chain reaction) in DNA samples from 367 patients affected by NSCL/P (experimental group) and 413 clinically normal subjects (control group). In the affected group, 54% were male and 46% female, mean age 19.1 ± 14.9 years and the prevalence of mixed black individuals (42.5%) and Caucasian (42%). The clefts of the lip with or without cleft palate (CLP) were predominant (54%), followed by cleft lip (FL) (24%) and cleft palate FP (22%). Out of 6 probable polymorphisms, only one was confirmed in this population: rs1057744 gene JAG2. For this polymorphic locus, the A allele and the genotype was slightly more common in the contr ol and experimental, without statistically signific ant differences. For this polymorphism , the analysis in a dominant or recessive mode also showed no statistically significant difference s between the group. This study demonstrated that the polymorphisms rs34019007 and rs4252315, present in the gene TGF?3, rs62636562, in the MSX1 gene, rs11549910 and rs11549909, in the MYH9 gene we re not confirmed. The rs1057744 polymorphism in JAG2 gene was confirmed in this study but not significantly associated with NSCL/P in the Brazilian population
Mestrado
Patologia
Mestre em Estomatopatologia
Books on the topic "Craniofacial abnormalities"
R, Thaller Seth, Garri Joe I, and Bradley James P. 1965-, eds. Craniofacial surgery. New York: Informa Healthcare, 2008.
Find full textG, Sarnat Bernard. Craniofacial biology and craniofacial surgery. Hackensack, N.J: World Scientific, 2010.
Find full textG, Sarnat Bernard. Craniofacial biology and craniofacial surgery. New Jersey: World Scientific, 2009.
Find full textJacobsson, Catharina. Teratological studies on craniofacial malformations. Göteborg: Department of Pedodontics ; Department of Otolaryngology, Head and Neck Surgery, Göteborg University, 1997.
Find full textPeter, Thorogood, Tickle Cheryll, and British Society for Developmental Biology., eds. Craniofacial development. Cambridge, England: Company of Biologists, 1988.
Find full textP, Caronni Ernesto, ed. Craniofacial surgery. Boston: Little, Brown, 1985.
Find full textE, Moyers Robert, Vig Katherine W. L, Burdi Alphonse R, and Ferrara Andrea M, eds. Craniofacial morphogenesis and dysmorphogenesis. Ann Arbor, Mich: Center for Human Growth and Development, University of Michigan, 1988.
Find full textKahn, Alice. Craniofacial anomalies: A beginner's guide for speech-language pathologists. San Diego: Singular Pub. Group, 2000.
Find full textSperber, Geoffrey H. Craniofacial embryogenetics and development. 2nd ed. Shelton, CT: People's Medical Pub. House USA, 2010.
Find full textG, Sarnat Bernard. Essays on craniofacial biology and craniofacial surgery. New Jersey: World Scientific, 2009.
Find full textBook chapters on the topic "Craniofacial abnormalities"
Leung, Alexander K. C., William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, et al. "Lissencephaly with and without Craniofacial and Extracranial Abnormalities." In Encyclopedia of Molecular Mechanisms of Disease, 1192–94. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_3147.
Full textCrompton, John, and Joanna Black. "Craniofacial abnormalities." In Pediatric Ophthalmology and Strabismus, 243–64. Elsevier, 2013. http://dx.doi.org/10.1016/b978-0-7020-4691-9.00028-5.
Full textHull, Jeremy, Julian Forton, and Anne Thomson. "Craniofacial abnormalities." In Paediatric Respiratory Medicine, 487–96. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199687060.003.0042.
Full textBlack, Joanna, and John Crompton. "Craniofacial abnormalities." In Taylor and Hoyt's Pediatric Ophthalmology and Strabismus, 250–66. Elsevier, 2017. http://dx.doi.org/10.1016/b978-0-7020-6616-0.00028-1.
Full text"2 Craniofacial Abnormalities." In Tenets of Craniosynostosis Surgical Principles and Advanced Multidisciplinary Care, edited by Deepak Kumar Gupta, Ashok Kumar Mahapatra, and Shweta Kedia. Noida: Thieme Medical and Scientific Publishers Private Limited, 2018. http://dx.doi.org/10.1055/b-0042-186662.
Full textHull, Jeremy, Julian Forton, and Anne H. Thompson. "Chapter 42 Craniofacial abnormalities." In Paediatric Respiratory Medicine. Oxford University Press, 2008. http://dx.doi.org/10.1093/med/9780199204847.003.0042.
Full textBloch-Zupan, Agnès, Heddie O. Sedano, and Crispian Scully. "Abnormalities of Tooth Shape and Size." In Dento/Oro/Craniofacial Anomalies and Genetics, 87–99. Elsevier, 2012. http://dx.doi.org/10.1016/b978-0-12-416038-5.00004-4.
Full textZein, Wadih M., Amy Feldman Lewanda, Elias I. Traboulsi, and Ethylin Wang Jabs. "Ocular Manifestations of Syndromes with Craniofacial Abnormalities." In Genetic Diseases of the Eye, 174–89. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780195326147.003.0012.
Full textLunardi, S., F. Forli, A. Michelucci, A. Liumbruno, F. Baldinotti, A. Fogli, V. Bertini, et al. "Genetic Hearing Loss Associated with Craniofacial Abnormalities." In Hearing Loss. InTech, 2012. http://dx.doi.org/10.5772/32622.
Full textGordillo, Miriam, Hugo Vega,, and Ethylin Wang Jabs. "ESCO2 and Roberts Syndrome." In Inborn Errors Of Development, 1011–19. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195306910.003.0111.
Full textConference papers on the topic "Craniofacial abnormalities"
Agarwal, Saloni, Rami R. Hallac, Rashika Mishra, Chao Li, Ovidiu Daescu, and Alex Kane. "Image Based Detection of Craniofacial Abnormalities using Feature Extraction by Classical Convolutional Neural Network." In 2018 IEEE 8th International Conference on Computational Advances in Bio and Medical Sciences (ICCABS). IEEE, 2018. http://dx.doi.org/10.1109/iccabs.2018.8541948.
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