Large Angle Congenital Esotropia in a Child With Kabuki Syndrome: A Case Report

Kabuki syndrome is an uncommon genetic disease associated with skeletal, cardiac, neurological, and ocular manifestations. Strabismus is an ophthalmic manifestation of Kabuki syndrome; however, it is infrequently documented in detail. We report a case of Kabuki syndrome in a patient who presented wi...

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Detalles Bibliográficos
Autores principales: Hamdi, Talaat, Basheikh, Ahmed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336651/
https://www.ncbi.nlm.nih.gov/pubmed/32642359
http://dx.doi.org/10.7759/cureus.8445
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author Hamdi, Talaat
Basheikh, Ahmed
author_facet Hamdi, Talaat
Basheikh, Ahmed
author_sort Hamdi, Talaat
collection PubMed
description Kabuki syndrome is an uncommon genetic disease associated with skeletal, cardiac, neurological, and ocular manifestations. Strabismus is an ophthalmic manifestation of Kabuki syndrome; however, it is infrequently documented in detail. We report a case of Kabuki syndrome in a patient who presented with large angle congenital esotropia. This case report highlights the importance of early eye examinations and subsequent interventions in patients diagnosed with Kabuki syndrome.
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spelling pubmed-73366512020-07-07 Large Angle Congenital Esotropia in a Child With Kabuki Syndrome: A Case Report Hamdi, Talaat Basheikh, Ahmed Cureus Genetics Kabuki syndrome is an uncommon genetic disease associated with skeletal, cardiac, neurological, and ocular manifestations. Strabismus is an ophthalmic manifestation of Kabuki syndrome; however, it is infrequently documented in detail. We report a case of Kabuki syndrome in a patient who presented with large angle congenital esotropia. This case report highlights the importance of early eye examinations and subsequent interventions in patients diagnosed with Kabuki syndrome. Cureus 2020-06-04 /pmc/articles/PMC7336651/ /pubmed/32642359 http://dx.doi.org/10.7759/cureus.8445 Text en Copyright © 2020, Hamdi et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Hamdi, Talaat
Basheikh, Ahmed
Large Angle Congenital Esotropia in a Child With Kabuki Syndrome: A Case Report
title Large Angle Congenital Esotropia in a Child With Kabuki Syndrome: A Case Report
title_full Large Angle Congenital Esotropia in a Child With Kabuki Syndrome: A Case Report
title_fullStr Large Angle Congenital Esotropia in a Child With Kabuki Syndrome: A Case Report
title_full_unstemmed Large Angle Congenital Esotropia in a Child With Kabuki Syndrome: A Case Report
title_short Large Angle Congenital Esotropia in a Child With Kabuki Syndrome: A Case Report
title_sort large angle congenital esotropia in a child with kabuki syndrome: a case report
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336651/
https://www.ncbi.nlm.nih.gov/pubmed/32642359
http://dx.doi.org/10.7759/cureus.8445
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