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Treacher Collins syndrome: A case report and review of ophthalmic features

Treacher Collins syndrome is a congenital disorder with bilaterally symmetric anomalies of the structures developing from the first and second branchial arches. The ocular and orbital features are an obligatory component for the diagnosis. We presented a case of typical, complete syndrome and also r...

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Detalles Bibliográficos
Autores principales: Sharma, Reena, Sharma, Brahmadeo, Babber, Meenu, Singh, Sonali, Jain, Gunjan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5525627/
https://www.ncbi.nlm.nih.gov/pubmed/29018745
http://dx.doi.org/10.1016/j.tjo.2016.07.002
Descripción
Sumario:Treacher Collins syndrome is a congenital disorder with bilaterally symmetric anomalies of the structures developing from the first and second branchial arches. The ocular and orbital features are an obligatory component for the diagnosis. We presented a case of typical, complete syndrome and also reviewed the varied ophthalmological manifestations of the disease in the literature. Antimongoloid slanting of palpebral fissures and lower lid colobomas are constant features of the syndrome. However, varied ocular and lacrimal drainage anomalies are also associated. TCS is a syndrome with multiple ocular and orbital features, a knowledge of which will help in the diagnosis of incomplete forms of the syndrome.