Treacher Collins syndrome with acute airway obstruction

Shah, Fahim Ahmed; Ramakrishna, S.; Ingle, V.S.; Dada, Jazleen; Khabori, Mazin Al; Murty, P. S.

doi:10.1016/s0165-5876(00)00336-0

Cited by 15 publications

(6 citation statements)

References 5 publications

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“…It is mainly characterized by craniofacial deformities like mandibular and zygomatic hypoplasia. TCOF1 gene mutations are the most common cause of the disorder 2 The phenotypical features of Treacher Collins Syndrome probably result from the bilateral congenital malformations involving first and second branchial arches 4,5 .…”

Section: Discussionmentioning

confidence: 99%

Airway management in a case of Treacher Collins Syndrome-A case report

H.D¹,

R²,

Balasubramanyam³

et al. 2014

IOSRJDMS

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Treacher Collins Syndrome, also known as mandibulofacial dysostosis is a rare autosomal dominant disorder characterized by craniofacial abnormalities and dysmorphic facies. The estimated incidence varies about 1 in 40,000 to 1 in 70,000 live births. It is associated with difficult mask ventilation and intubation because of facial abnormalities. Hence, recognition of this syndrome is of prime importance for us as anaesthesiologists to prevent potential airway problems under anaesthesia. Here, we report a case of Treacher Collins Syndrome posted for pseudopterygium excision, who was successfully managed with general anaesthesia.

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Section: Discussionmentioning

confidence: 99%

Airway management in a case of Treacher Collins Syndrome-A case report

H.D¹,

R²,

Balasubramanyam³

et al. 2014

IOSRJDMS

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“…Its phenotypical expression probably results from bilateral congenital malformation involving the first and second brachial arches. 4 5 …”

Section: Discussionmentioning

confidence: 99%

Treacher Collins Syndrome: A Case Report and a Brief Review on Diagnostic Aids

Shetty

Thomas

Pidamale

2011

International Journal of Clinical Pediatric Dentistry

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Treacher Collins syndrome (Mandibulofacial dysostosis) is characterized by deafness, hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid and bilateral anomalies of the auricle. Hypoplasia of the facial bones may be the first indicator of the disorder. We present a case report of Treacher Collins syndrome with their extraoral findings, intraoral findings and their treatment plan. We have also included the various etiological factors, clinical diagnostic aids, and multidisciplinary team approach.

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“…É um distúrbio do desenvolvimento de herança autossômica dominante e expressividade variável que provoca alterações bilaterais e simétricas de estruturas originadas do primeiro e segundo arcos branquiais e dos placódios nasais (6).…”

Section: A Síndrome De Treacher Collins (Stc) Ou Disostose Mandibulofunclassified

Repercussões Bucais da Síndrome de Treacher Collins: revisão de literatura

Spezzia

2018

JOI

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A Síndrome de Treacher Collins é um distúrbio do desenvolvimento de herança autossômica dominante e expressividade variável que ocorre, devido a um defeito genético com mutações no gene TCOF1, presente no cromossomo 5, que tem 26 éxons e codifica uma proteína chamada treacle. O objetivo desta pesquisa foi averiguar por intermédio de uma revisão de literatura as principais manifestações clínicas propiciadas pela síndrome em âmbito odontológico. Realizou-se revisão bibliográfica com busca nas bases de dados: PubMED e Google Acadêmico. Na base PubMED empregou-se a expressão de busca: treacher collins syndrome and dentistry and oral health. No Google Acadêmico utilizou-se a expressão de busca: síndrome de treacher collins and odontologia and saúde bucal. O diagnóstico, o tratamento bem como as orientações dispensadas aos pacientes acerca da enfermidade, devem ser precoces, e são importantes para o restabelecimento das funções mastigatória, estética e auditiva. Concluiu-se que as abordagens clínicas nesses pacientes devem ser precoces para minimizar eventuais danos e que as intervenções terapêuticas propostas visam melhorar a qualidade de vida dos pacientes acometidos pela síndrome.

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Treacher Collins syndrome with acute airway obstruction

Cited by 15 publications

References 5 publications

Airway management in a case of Treacher Collins Syndrome-A case report

Airway management in a case of Treacher Collins Syndrome-A case report

Treacher Collins Syndrome: A Case Report and a Brief Review on Diagnostic Aids

Repercussões Bucais da Síndrome de Treacher Collins: revisão de literatura

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