Síndrome de Treacher Collins com atresia coanal: relato de caso e revisão de suas características

Andrade, Eduardo Carvalho de; Júnior, Vanier S.; Didoni, Ana L. S.; Freitas, Priscila Z.; Carneiro, Araken F.; Yoshimoto, Fabiana R.

doi:10.1590/s0034-72992005000100021

Cited by 12 publications

(5 citation statements)

References 12 publications

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“…3 | TREACHER COLLINS SYNDROME Treacher Collins syndrome (TCS) presents with a wide spectrum of craniofacial defects, often including CA (Andrade et al, 2005;Horiuchi et al, 2004;Trainor, 2010). Mutations in TCOF1, POLR1C and POLR1D are responsible for causing TCS, and all three genes play roles in ribosomal RNA production and subsequently ribosome biogenesis (Terrazas, Dixon, Trainor, & Dixon, 2017;Valdez, Henning, So, Dixon, & Dixon, 2004).…”

Section: Neurocristopathymentioning

confidence: 99%

“…For these reasons, it remains important to clarify the pathology of CA in order to further understanding of the etiology and pathogenesis of craniofacial malformations. We also know from clinical experience that CA frequently presents in different syndromes and disorders as part of a complex phenotype (Andrade et al, 2005;Burrow et al, 2009;Stieve, Kempf, & Lenarz, 2009). Interestingly, genes that are mutated in different syndromes which also exhibit CA or CS can be categorized according to their association with certain signaling pathways which are important for cellular activities such as FGF signaling and neural crest development, respectively.…”

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confidence: 99%

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Choanal atresia and stenosis: Development and diseases of the nasal cavity

Kurosaka

2018

WIREs Developmental Biology

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Proper craniofacial development in vertebrates depends on growth and fusion of the facial processes during embryogenesis. Failure of any step in this process could lead to craniofacial anomalies such as facial clefting, which has been well studied with regard to its molecular etiology and cellular pathogenesis. Nasal cavity invagination is also a critical event in proper craniofacial development, and is required for the formation of a functional nasal cavity and airway. The nasal cavity must connect the nasopharynx with the primitive choanae to complete an airway from the nostril to the nasopharynx. In contrast to orofacial clefts, defects in nasal cavity and airway formation, such as choanal atresia (CA), in which the connection between the nasal airway and nasopharynx is physically blocked, have largely been understudied. This is also true for a narrowed connection between the nasal cavity and the nasopharynx, which is known as choanal stenosis (CS). CA occurs in approximately 1 in 5,000 live births, and can present in isolation but typically arises as part of a syndrome. Despite the fact that CA and CS usually require immediate intervention, and substantially affect the quality of life of affected individuals, the etiology and pathogenesis of CA and CS have remained elusive. In this review I focus on the process of nasal cavity development with respect to forming a functional airway and discuss the cellular behavior and molecular networks governing this process. Additionally, the etiology of human CA is discussed using examples of disorders which involve CA or CS. This article is categorized under: Signaling Pathways > Cell Fate Signaling Comparative Development and Evolution > Model Systems Birth Defects > Craniofacial and Nervous System Anomalies

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Section: Neurocristopathymentioning

confidence: 99%

mentioning

confidence: 99%

Choanal atresia and stenosis: Development and diseases of the nasal cavity

Kurosaka

2018

WIREs Developmental Biology

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“…A disostose mandibulofacial mais comumente descrita é a Síndrome de Treacher Collins (STC). Andrade et al (2005), ao resgatarem o histórico de identificação da STC, pontuam que esse é o nome usualmente escolhido para se referir a este diagnóstico, já que foi Treacher Collins em 1900 que descreveu seus componentes essenciais. Os autores apontam que a incidência da síndrome varia entre 1:40.000 a 1:70.000 nascidos vivos, sem dominância de sexo ou raça, de transmissão autossômica dominante e expressividade variável com grande diversidade de manifestação clínica.…”

Section: Introductionunclassified

Narrativas sobre a vida e o início do tratamento de uma paciente com Síndrome de Treacher Collins: um estudo de caso

Guedes¹,

Ribas

Abramides

2020

Rev Psi Divers Saúde

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Síndrome de Treacher Collins (STC) é uma anomalia do desenvolvimento craniofacial rara de manifestação clínica variável. Este estudo teve por objetivo principal analisar a experiência de uma mulher de 26 anos com STC que iniciou a reabilitação na idade adulta, buscando aprofundar possíveis impactos para o seu desenvolvimento. Com aprovação do Comitê de Ética em Pesquisa (CAAE 00981418.3.0000.5441), realizou-se um estudo de caso clínico por meio da análise documental do prontuário multiprofissional e uma entrevista semiestruturada gravada em áudio, transcrita integralmente e analisada qualitativamente pela técnica de Análise de Conteúdo de Bardin. Evidenciaram-se duas categorias temáticas que sinalizam a experiência de vida da participante dividida em dois momentos: (1)“Desenvolvimento até a fase adulta” que abarcou as subcategorias: “O que eu tenho?”; “Relacionamento com a mãe”; “Eu sofri bullying: desafio da escolarização” (2) “Ser alguém com Síndrome de Treacher Collins”, e subcategorias: “Existem outros como eu: conhecendo o diagnóstico”; “Início do tratamento: desafios e expectativas”; “A psicologia e a equipe interdisciplinar”; “Mas hoje eu sou feliz: planos para o futuro”. STC, sendo uma malformação facial, pode implicar em conviver com o estigma de não apresentar o rosto dentro dos padrões sociais impostos. No caso analisado, apontou-se sofrimento emocional, sendo este intensificado pelo não pedido de ajuda. Por outro lado, o diagnóstico da síndrome possibilitou o processo de identificação com outros sujeitos acometidos, o início da reabilitação e a vivência de impactos positivos em sua qualidade de vida. A psicologia figurou como espaço de escuta e possibilidade de reflexão sobre o processo de reabilitação.

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“…The phenotypic expression of this disease probably results from a congenital malformation involving the first and second branchial arches. The basic characteristic of this disease refers to a disability during the seventh week of gestation, while the facial bones are forming (8,9).…”

Section: Introductionmentioning

confidence: 99%

Evolution of a child with Treacher Collins syndrome undergoing physiotherapeutic treatment

et al. 2015

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Introduction Treacher Collins syndrome, or mandibulofacial dysostosis, is a hereditary disorder and is manifested by craniofacial malformations. The incidence is close to one case per 40,000 live births, without relation to gender or race. The infant carrier may present neurological development. This rare syndrome requires documentation of its main clinical and kinetic-functional consequences.Objectives The purpose of this study was to describe the clinical and kinetic-functional findings for a child who has Treacher Collins syndrome and receives treatment in the Physiotherapy Department at the Pestalozzi Association in Goiania, and to present the evolution of motor function and psychomotor development during rehabilitation.Materials and methods The information was obtained through interviews with the mother, and evaluation of the child at nine and eleven months old, using the infant neurological assessment sheet, Inventory Operational Portage (IPO) and Gross Motor Function Measure (GMFM).Results The GMFM showed that the child had a higher trend in the items for lying and rolling, sitting, crawling and kneeling and minor changes in the items for standing, walking, running and jumping. In the IPO, the child progressed in all of the assessed areas: infant stimulation, motor development, socialization, self-care, cognition and language.Conclusion The child showed progress in psychomotor development in accordance with that expected for their age and initial assessment. It is suggested that children with this syndrome be treated by multidisciplinary teams in the first years of life, preventing delays and deviations in development.

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Síndrome de Treacher Collins com atresia coanal: relato de caso e revisão de suas características

Cited by 12 publications

References 12 publications

Choanal atresia and stenosis: Development and diseases of the nasal cavity

Choanal atresia and stenosis: Development and diseases of the nasal cavity

Narrativas sobre a vida e o início do tratamento de uma paciente com Síndrome de Treacher Collins: um estudo de caso

Evolution of a child with Treacher Collins syndrome undergoing physiotherapeutic treatment

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