Ophthalmic features and visual prognosis in the Treacher-Collins syndrome.

Hertle, Richard W.; Ziylan, Sule; Katowitz, James A.

doi:10.1136/bjo.77.10.642

Cited by 57 publications

(42 citation statements)

References 14 publications

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“…71 In addition, strabismus, vision loss, and amblyopia are common. 76,77 Mandibular hypoplasia often presents as Pierre Robin sequence. 71 The combined effect of mandibular and maxillary hypoplasia often leads to significant ankylosis of the temporomandibular joint.…”

Section: Treacher Collins Syndromementioning

confidence: 99%

Craniofacial Syndromes

Buchanan

Xue

Hollier

2014

Plastic and Reconstructive Surgery

167

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Craniofacial syndromes fall into two major categories-those associated with craniosynostosis, and those associated with clefts. Each has a different set of potential complications requiring a unique approach for surgical management. Craniosynostosis is a congenital disorder in which one or more of the cranial sutures fuses prematurely. The most common syndromes associated with this condition include Crouzon, Apert, Pfeiffer, Muenke, and Saethre-Chotzen syndromes. Surgical management of these children requires a multidisciplinary approach and close involvement of the family. Operations must take into consideration the growing potential of the bony structures. Common syndromes associated with clefts include Pierre Robin, Treacher Collins, Nager, Binder, and Stickler syndromes. Many of these children have severe airway issues requiring immediate address before operative reconstruction. As with syndromes associated with craniosynostosis, the key to management is a multidisciplinary approach focused on the right timing. The purpose of this article is to review the clinical presentation, care, and treatment of these patients.

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Section: Treacher Collins Syndromementioning

confidence: 99%

Craniofacial Syndromes

Buchanan

Xue

Hollier

2014

Plastic and Reconstructive Surgery

167

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“…In that study exotropia was more common than esodeviations, though various other studies have shown the incidence of esodeviations compared to exodeviations to be roughly equal. 15,14 In our study, 5.29% of the patients with gaze abnormalities had esotropia and 16.55% of the patients had exotropia. 11.26% of orthophoric gaze patients had nystagmus.…”

Section: Resultsmentioning

confidence: 88%

Ocular Manifestation in Patients With Craniofacial Anomalies - A Hospital Based Study

M¹,

Shetty²,

Pai³

2016

jemds

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BACKGROUND Ocular manifestations in Children with Craniofacial Anomalies are an important but easily overlooked part as the patient and his family tends to be more focused on the more visible cosmetic disfigurement. The disfigurement while may be corrected in the hands of a competent surgeon at a later date, more lasting harm may be done to the patient's well-being if simple correctable refractive or other ocular conditions are left too late. This study was done to detect ocular involvement in patients with craniofacial anomalies and also to emphasise importance of routine ophthalmic examination in these patients. MATERIALS AND METHODSThis was a cross-sectional observational type of study. Study duration was dated from dated from November 2012 to October 2014. All patients who presented to the Department of Ophthalmology of Justice KS Hegde Medical College Hospital, Mangalore with craniofacial anomalies were included in this study. All patients with CFA were included in the study irrespective of age of presentation, gender or history of previous corrective surgery. The patients were evaluated at the time of presenting to the Department of Ophthalmology of Justice KS Hegde Medical College, Mangalore. Duration of this study was dated from November 2012 to October 2014. RESULTSOut of the 151 patients screened, 47.68 % (n=72) of the patients had one or the other forms of ocular anomalies. Patients with craniosynostosis had 100% ocular involvement (n=39). In patients with clefting syndrome, 29.46% of the patients had ocular involvement (n=33). Refractive error was most common ocular anomaly detected in our study. 49.01% of the patients in our study had refractive error out of which 22.51% of the patients were hypermetropes. CONCLUSIONFindings in our study suggest that there are numerous ocular associations in patients with craniofacial anomalies. A routine ophthalmic evaluation would help in early diagnosis of these ocular conditions and early management which would greatly benefit the patient.

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“…As alterações mais frequentes são: estrabismo, ametropias e alterações palpebrais, dentre outras (33,34).…”

Section: Discussionunclassified

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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Ophthalmic features and visual prognosis in the Treacher-Collins syndrome.

Abstract: (BrJ Ophthalmol 1993; 77: 642-645)

Cited by 57 publications

References 14 publications

Craniofacial Syndromes

Craniofacial Syndromes

Ocular Manifestation in Patients With Craniofacial Anomalies - A Hospital Based Study

Repercussões Bucais da Síndrome de Treacher Collins: revisão de literatura

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