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Fisura labio palatina: revisión de la literatura

Prieto-Gómez, Ruth; Carreño, Andrés; Contreras, Ammy; Garay, Marco; Labarca, Ignacio; Medina, Rodemil; Ottone, Nicolás E; Deppe, Mariana.
Int. j. morphol; 40 (6), 2022
La formación del paladar ocurre entre la quinta y undécima semana de vida intrauterina producto de la unión del paladar primario y secundario. Por otra parte, la formación del labio superior ocurre entre la quinta y sexta semana del desarrollo, y se configura en su parte media por la fusión de los p...
Labio Leporino/embriología, Fisura del Paladar/embriología, Labio Leporino/epidemiología, Fisura del Paladar/epidemiología, Labio Leporino/genética, Fisura del Paladar/genética
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The risk of nonsyndromic cleft lip with or without cleft palate and Vax1 rs7078160 polymorphisms in southern Han Chinese

Wang, Qian; Sun, Sichao; Song, Qinggao; Hu, Huan; An, Jiaxing; Liu, Jianguo.
Braz. j. otorhinolaryngol. (Impr.); 87 (6), 2021
Abstract Introduction: Non-syndromic cleft lip with or without cleft palate is a common worldwide birth defect due to a combination of environmental and genetic factors. Genome-wide association studies reported the rs7078160 of Vax1 is closely related to non-syndromic cleft lip with or without cleft pal...
Estudios de Casos y Controles, China, Labio Leporino/genética, Fisura del Paladar/genética, Predisposición Genética a la Enfermedad, Estudio de Asociación del Genoma Completo, Genotipo, Proteínas de Homeodominio/genética, Polimorfismo de Nucleótido Simple, Factores de Transcripción/genética
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Identification of genomic imbalances in oral clefts

Lustosa-Mendes, Elaine; Santos, Ana P dos; Vieira, Társis P; Ribeiro, Erlane M; Rezende, Adriana A; Fett-Conte, Agnes C; Cavalcanti, Denise P; Félix, Têmis M; Monlleó, Isabella L; Gil-da-Silva-Lopes, Vera Lúcia.
J. pediatr. (Rio J.); 97 (3), 2021
Abstract Objective This article presents a clinical and cytogenomic approach that focuses on the diagnosis of syndromic oral clefts (OCs). Methods The inclusion criteria were individuals with OC presenting four or more minor signs and no major defects (non-syndromic oral clefts [NSOCs]) as well as indi...
Brasil, Aberraciones Cromosómicas, Labio Leporino/genética, Fisura del Paladar/genética, Genómica
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IRF6 polymorphisms in Brazilian patients with non-syndromic cleft lip with or without palate

Bezerra, João Felipe; Silva, Heglayne Pereira Vital da; Bortolin, Raul Hernandes; Luchessi, André Ducati; Ururahy, Marcela Abbott Galvão; Loureiro, Melina Bezerra; Gil-da-Silva-Lopes, Vera Lúcia; Almeida, Maria das Graças; Amaral, Viviane Souza do; Rezende, Adriana Augusto de.
Braz. j. otorhinolaryngol. (Impr.); 86 (6), 2020
Abstract Introduction: Non-syndromic orofacial clefts have a complex etiology due to the contribution from both genetic and environmental risk factors, as well as the interaction between them. Among the more than 15 susceptibility loci for non-syndromic orofacial clefts with considerable statistical and...
Brasil, Labio Leporino/genética, Fisura del Paladar/genética, Predisposición Genética a la Enfermedad, Genotipo, Factores Reguladores del Interferón/genética, Polimorfismo Genético
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Using Standard Digital Extra-Oral Photography in Patient With Cleft Lip and Palate

Paiva, Tatiana S; Andre, Marcia; Camara-Mattos, Beatriz Silva.
Int. j. odontostomatol. (Print); 13 (3), 2019
ABSTRACT: A standardized photographic documentation is reproducible, which facilitates the evaluation of new techniques, treatment planning, and comparison of results. Clinical photography is important to impart scientific education to health professionals, because techniques can be better understood by ...
Labio Leporino/patología, Labio Leporino/genética, Fisura del Paladar/patología, Fisura del Paladar/genética, Fotografía Dental/métodos, Fotografía Dental/normas, Brasil, Procesamiento de Imagen Asistido por Computador, Consentimiento Informado
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IRF6 rs2235375 single nucleotide polymorphism is associated with isolated non-syndromic cleft palate but not with cleft lip with or without palate in South Indian population

Gurramkonda, Venkatesh Babu; Syed, Altaf Hussain; Murthy, Jyotsna; Lakkakula, Bhaskar V K S.
Braz. j. otorhinolaryngol. (Impr.); 84 (4), 2018
Abstract Introduction Transcription factors are very diverse family of proteins involved in activating or repressing the transcription of a gene at a given time. Several studies using animal models demonstrated the role of transcription factor genes in craniofacial development. Objective We aimed to in...
Estudios de Casos y Controles, Labio Leporino/etnología, Labio Leporino/genética, Fisura del Paladar/etnología, Fisura del Paladar/genética, Frecuencia de los Genes, Estudios de Asociación Genética, Técnicas de Genotipaje, India, Factores Reguladores del Interferón/genética, Polimorfismo de Nucleótido Simple/genética, Factores de Riesgo
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Association of single nucleotide polymorphisms in AXIN2, BMP4, and IRF6 with Non-Syndromic Cleft Lip with or without Cleft Palate in a sample of the southeast Iranian population

Rafighdoost, Houshang; Hashemi, Mohammad; Danesh, Hiva; Bizhani, Fatemeh; Bahari, Gholamreza; Taheri, Mohsen.
J. appl. oral sci; 25 (6), 2017
Abstract Non-syndromic cleft lip with or without palate (NSCL/P) is a common congenital malformation worldwide, with complex etiology. It has been proposed that interaction of genes and environmental factors play a role in the predisposition to this disease. Objectives: The aim of this study was to exam...
Proteína Axina/genética, Proteína Morfogenética Ósea 4/genética, Estudios de Casos y Controles, Labio Leporino/genética, Fisura del Paladar/genética, Frecuencia de los Genes, Predisposición Genética a la Enfermedad, Genotipo, Factores Reguladores del Interferón/genética, Irán, Polimorfismo de Longitud del Fragmento de Restricción, Polimorfismo de Nucleótido Simple
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Irmãos afetados pela síndrome de ectrodactilia, displasia ectodérmica e fissura labiopalatal (eec) com pais hígidos: mosaicismo germinativo?

Rosa, Rafael Fabiano Machado; Moraes, Samir Abou Ghaouche de; Sulczinski, Leonardo Paludo; Silva, Filipe Augusto da; Milner, Olga Gaio; Pires, Silvana Rodrigues Streit; Artigalas, Osvaldo Alfonso Pinto; Rosa, Rosana Cardoso Manique; Zen, Paulo Ricardo Gazzola.
Rev. paul. pediatr; 35 (2), 2017
RESUMO Objetivo: EEC é um acrônimo para uma síndrome autossômica dominante caracterizada clinicamente por ectrodactilia (E), displasia ectodérmica efissura labiopalatal (C). Nosso objetivo foi relatar um caso raro de irmãos afetados pela síndrome de ectrodactilia, displasia ectodérmica efissura...
Labio Leporino/genética, Fisura del Paladar/genética, Displasia Ectodérmica/genética, Resultado Fatal, Mutación de Línea Germinal, Mosaicismo, Padres, Linaje, Fenotipo
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