Submucous Cleft Palate
Mostrando 1-8 de 8 artigos, teses e dissertações.
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1. Investigação de fatores genéticos na etiologia de fendas orofaciais típicas / Investigation of genetic factors on the etiology of orofacial clefts typical
Typical oral cleft (TOC) is a prevalent and heterogeneous group of congenital defects with multiple etiologies, which remain unknown in several cases. Population studies detected several genes related to TOC. An individualized investigation, involving different laboratorial tools at same time, is an approach that can contribute on the etiological characteriz
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 27/02/2012
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2. Investigação de alterações na região 22q11 em indivíduos com fissura de palato / Investigation of the alterations in the region 22q11 in individuals with cleft palate
Purpose: To investigate alterations (deletions/duplications) in the 22q11 region in individuals with cleft palate aged 0-2 years, in order to perform early diagnosis of 22q11 deletion syndrome (SD22q11). Local: Genetics and Human Cytogenetics Laboratory, HRAC/USP, Bauru-SP. Methods: We selected 55 individuals with cleft palate, both genders, registered and i
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 08/12/2011
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3. Therapeutic stages and approaches adopted at the Hospital for Rehabilitation of Craniofacial Anomalies/USP for submucous cleft palate / Etapas e condutas terapêuticas adotadas no Hospital de Reabilitação de Anomalias Craniofaciais/USP para a fissura de palato submucosa: análise de resultados
Este trabalho teve como objetivo analisar os casos com fissura de palato submucosa (FPSM) acompanhados no HRAC/USP, no período de 1984 a 2004, verificando a distribuição destes casos de acordo com a idade e conduta adotada na consulta inicial e; se a conduta inicialmente adotada manteve-se ou necessitou ser reconsiderada. Foram analisados 1.260 prontuári
Publicado em: 2007
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4. Relação entre os sinais clínicos da fissura de palato submucosa e a sintomatologia específica: uma abordagem preventiva. / Relationship between the clinical signs of submucous cleft palate and the specific symptomatology: a preventive approach.
Objective: Point out the prevalence and anatomic functional findings of submucous cleft palate (SCP) with surgical indication in relation to the symptomatic aspect by giving importance to diagnosis and follow-up of patients evolution in a preventive approach. Pattern: Prospective study, haphazard samples. Setting: Rehabilitation Hospital of Craniofacial Anom
Publicado em: 2002
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5. Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes
Craniofacial defects involving the lip and/or palate are among the most common human birth defects. X-linked cleft palate and ankyloglossia results from loss-of-function mutations in the gene encoding the T-box transcription factor TBX22. Further studies show that TBX22 mutations are also found in around 5% of non-syndromic cleft palate patients. Although pa
Oxford University Press.
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6. Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?
We report three cases of velocardiofacial syndrome (VCFS) with anal anomalies who have deletions of the 22q11 region and a further case where the proband has VCFS clinically and her father has an anal anomaly. It is important to consider VCFS in the differential diagnosis of children with anal anomalies and to look for other features of the syndrome, such as
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7. Characterisation of an inverted X chromosome (p11.2q21.3) associated with mental retardation using FISH.
We report on a patient with a pericentric inversion of the X chromosome, 46,Y,inv(X) (p11.2q21.3), who was referred for cytogenetic analysis because of mild mental retardation, short stature, prepubescent macro-orchidism, and submucous cleft palate. The same chromosomal abnormality was found in the proband's mother. The inverted X chromosome was late replica
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8. Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.
Split hand/split foot malformation (SHSF) has been described in several patients associated with cytogenetically visible rearrangements involving chromosome 7q. Characterisation of these patients has led to localisation of an autosomal dominant form of SHSF to 7q21-22; the locus has been designated SHFM1. We describe a patient with a complex, apparently bala