Craniofacial Abnormalities
Mostrando 1-12 de 59 artigos, teses e dissertações.
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1. Congenital Heart Disease Revealing Familial 22q11 Deletion Syndrome
Abstract Congenital heart defects are the most common birth defects and the leading cause of mortality in the first year of life. It is well known that the 22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans and that congenial heart diseases (CHDs) are one of the most common phenotypic manifestations. However, it should be n
Int. J. Cardiovasc. Sci.. Publicado em: 2020-07
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2. Managing obstructive sleep apnoea in children: the role of craniofacial morphology
Obstructive sleep apnoea syndrome is a type of sleep-disordered breathing that affects 1 to 5% of all children. Pharyngeal and palatine tonsil hypertrophy is the main predisposing factor. Various abnormalities are predisposing factors for obstructive sleep apnoea, such as decreased mandibular and maxillary lengths, skeletal retrusion, increased lower facial
Clinics. Publicado em: 2016-11
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3. Fragile X syndrome: panoramic radiographic evaluation of dental anomalies, dental mineralization stage, and mandibular angle
ABSTRACT Fragile X syndrome (FXS) is a disorder linked to the chromosome X long arm (Xq27.3), which is identified by a constriction named fragile site. It determines various changes, such as behavioral or emotional problems, learning difficulties, and intellectual disabilities. Craniofacial abnormalities such as elongated and narrow face, prominent forehead,
J. Appl. Oral Sci.. Publicado em: 2016-10
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4. 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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5. Craniofacial bone abnormalities and malocclusion in individuals with sickle cell anemia: a critical review of the literature
This study aims to critically review the literature in respect to craniofacial bone abnormalities and malocclusion in sickle cell anemia individuals. The Bireme and Pubmed electronic databases were searched using the following keywords: malocclusion, maxillofacial abnormalities, and Angle Class I, Class II and lass III malocclusions combined with sickle cell
Revista Brasileira de Hematologia e Hemoterapia. Publicado em: 2012
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6. Hematological abnormalities and 22q11.2 deletion syndrome
The 22q11.2 deletion syndrome (22q11DS) is a common genetic disease characterized by broad phenotypic variability. Despite the small number of studies describing hematological alterations in individuals with 22q11DS, it appears that these abnormalities are more frequent than previously imagined. Thus, the objective of our study was to report on a patient wit
Revista Brasileira de Hematologia e Hemoterapia. Publicado em: 2011
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7. Avaliação de novos polimorfismos nos genes TGFB3, MSX1, MYH9 e JAG2 em pacientes com fissuras lábio-palatinas não-sindrômicas / Evaluation of novel polymorphisms in genes TGFB3, MSX1, MYH9 and JAG2 in non syndromic cleft lip and palate
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 desenv
Publicado em: 2011
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8. Goldenhar syndrome: clinical features with orofacial emphasis
OBJECTIVES: Goldenhar syndrome (GS) is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects. This paper describes GS features with special emphasis on oral characteristics. MATERIAL AND METHODS: The clinical features of 6 patients with GS aged 3 mo
Journal of Applied Oral Science. Publicado em: 2010-12
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9. Refinamento citogenético em indivíduos com anomalias craniofaciais sindômicas sem diagnóstico definido / Cytogenetic refinement in individuals with syndromic craniofacial anomalies with unkown diagnoses
Objetivos: Investigar possíveis alterações citogenéticas, através da técnica de bandamento de alta resolução, em indivíduos com anomalias craniofaciais associadas ao atraso no desenvolvimento neuropsicomotor e sem diagnóstico clínico-genético definido, com cariótipo (com bandas) prévio normal e estabelecer possível correlação entre o fenóti
Publicado em: 2010
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10. Cephalometric evaluation of pharyngeal airway space changes in class III patients undergoing orthognathic surgery : retrospective study / Avaliação cefalométrica das alterações da via aérea superior em pacientes classe III submetidos à cirurgia ortognática : estudo retrospectivo
The configuration and dimensions of the upper airway are determined by the anatomical structures such as soft tissue, muscles and craniofacial skeleton, which comprise or surround the pharynx. Anatomic abnormalities of the soft tissue and/or the craniofacial skeleton may narrow the upper airway leading to obstructive sleep apnea. Class III patients, after or
Publicado em: 2010
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11. Manifestações bucais em pacientes com síndrome de Kabuki
Kabuki syndrome (KS, Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a rare genetic disorder characterized by multiple congenital anomalies and mental retardation. The diagnosis is clinical and based on the findings described simultaneously in independent studies of two groups in Japan. The sample comprised sixteen KS individuals diagnosed by Department
Publicado em: 2010
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12. Estudo comparativo sobre a influência das agenesias dentárias no padrão cefalométrico
This study aimed to ascertain the influence of dental agenesis in cephalometric pattern in patients residing in the city of João Pessoa / PB, in the year 2009. The sample consisted of 52 patients with congenital absence of one or more teeth (excluding third molars) of both sexes in mixed dentition (group 1, n = 29 patients, aged 8 to 12 years, mean 9.93 1.4
Publicado em: 2010