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Floppy eyelid syndrome in stickler syndrome
PURPOSE: To report the possible connection between Stickler syndrome and floppy eyelid syndrome. OBSERVATIONS: A 36-year-old man with genetically confirmed Stickler syndrome presented with prominent bilateral eyelid laxity consistent with floppy eyelid syndrome. He had a high-arched palate and repor...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365810/ https://www.ncbi.nlm.nih.gov/pubmed/30775613 http://dx.doi.org/10.1016/j.ajoc.2019.01.014 |
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author | Sun, Susan Y. Pulido, Jose S. Bartley, George B. Chen, John J. |
author_facet | Sun, Susan Y. Pulido, Jose S. Bartley, George B. Chen, John J. |
author_sort | Sun, Susan Y. |
collection | PubMed |
description | PURPOSE: To report the possible connection between Stickler syndrome and floppy eyelid syndrome. OBSERVATIONS: A 36-year-old man with genetically confirmed Stickler syndrome presented with prominent bilateral eyelid laxity consistent with floppy eyelid syndrome. He had a high-arched palate and reported years of apneic episodes during sleep consistent with obstructive sleep apnea (OSA). CONCLUSIONS AND IMPORTANCE: To our knowledge, there have been no prior reported cases of floppy eyelid syndrome in Stickler syndrome patients. However, many patients with Stickler syndrome have palate abnormalities, which are associated with a higher risk of OSA. Given the known association between floppy eyelid syndrome and OSA, this case highlights the potential role for the ophthalmologist in identifying these patients and referring them for a sleep study if floppy eyelid syndrome is identified. |
format | Online Article Text |
id | pubmed-6365810 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-63658102019-02-15 Floppy eyelid syndrome in stickler syndrome Sun, Susan Y. Pulido, Jose S. Bartley, George B. Chen, John J. Am J Ophthalmol Case Rep Case Report PURPOSE: To report the possible connection between Stickler syndrome and floppy eyelid syndrome. OBSERVATIONS: A 36-year-old man with genetically confirmed Stickler syndrome presented with prominent bilateral eyelid laxity consistent with floppy eyelid syndrome. He had a high-arched palate and reported years of apneic episodes during sleep consistent with obstructive sleep apnea (OSA). CONCLUSIONS AND IMPORTANCE: To our knowledge, there have been no prior reported cases of floppy eyelid syndrome in Stickler syndrome patients. However, many patients with Stickler syndrome have palate abnormalities, which are associated with a higher risk of OSA. Given the known association between floppy eyelid syndrome and OSA, this case highlights the potential role for the ophthalmologist in identifying these patients and referring them for a sleep study if floppy eyelid syndrome is identified. Elsevier 2019-01-31 /pmc/articles/PMC6365810/ /pubmed/30775613 http://dx.doi.org/10.1016/j.ajoc.2019.01.014 Text en © 2019 The Authors. Published by Elsevier Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Sun, Susan Y. Pulido, Jose S. Bartley, George B. Chen, John J. Floppy eyelid syndrome in stickler syndrome |
title | Floppy eyelid syndrome in stickler syndrome |
title_full | Floppy eyelid syndrome in stickler syndrome |
title_fullStr | Floppy eyelid syndrome in stickler syndrome |
title_full_unstemmed | Floppy eyelid syndrome in stickler syndrome |
title_short | Floppy eyelid syndrome in stickler syndrome |
title_sort | floppy eyelid syndrome in stickler syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365810/ https://www.ncbi.nlm.nih.gov/pubmed/30775613 http://dx.doi.org/10.1016/j.ajoc.2019.01.014 |
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