Obstructive Sleep Apnea in a Patient with Cornelia de Lange Syndrome

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is characterized by specific facial, skeletal, and behavioral features associated with variable degrees of intellectual disabilities. Sleep disturbances have been reported in patients with CdLS including insomnia, sleep-disordered bre...

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Detalles Bibliográficos
Autores principales: Mashaqi, Saif, Hennessy, Jill, Eaton, Matthew, Erickson, Joel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2017
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832399/
https://www.ncbi.nlm.nih.gov/pubmed/29507843
http://dx.doi.org/10.7759/cureus.1993
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author Mashaqi, Saif
Hennessy, Jill
Eaton, Matthew
Erickson, Joel
author_facet Mashaqi, Saif
Hennessy, Jill
Eaton, Matthew
Erickson, Joel
author_sort Mashaqi, Saif
collection PubMed
description Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is characterized by specific facial, skeletal, and behavioral features associated with variable degrees of intellectual disabilities. Sleep disturbances have been reported in patients with CdLS including insomnia, sleep-disordered breathing, intrinsic sleep disorders, and circadian rhythm disorders. The prevalence of sleep-related breathing disorders, in particular, obstructive sleep apnea (OSA), was conducted using validated questionnaires. We report the first case of CdLS that confirmed a moderate to severe degree of OSA using overnight polysomnography, which is the gold standard diagnostic test for OSA.
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spelling pubmed-58323992018-03-05 Obstructive Sleep Apnea in a Patient with Cornelia de Lange Syndrome Mashaqi, Saif Hennessy, Jill Eaton, Matthew Erickson, Joel Cureus Genetics Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is characterized by specific facial, skeletal, and behavioral features associated with variable degrees of intellectual disabilities. Sleep disturbances have been reported in patients with CdLS including insomnia, sleep-disordered breathing, intrinsic sleep disorders, and circadian rhythm disorders. The prevalence of sleep-related breathing disorders, in particular, obstructive sleep apnea (OSA), was conducted using validated questionnaires. We report the first case of CdLS that confirmed a moderate to severe degree of OSA using overnight polysomnography, which is the gold standard diagnostic test for OSA. Cureus 2017-12-28 /pmc/articles/PMC5832399/ /pubmed/29507843 http://dx.doi.org/10.7759/cureus.1993 Text en Copyright © 2017, Mashaqi 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
Mashaqi, Saif
Hennessy, Jill
Eaton, Matthew
Erickson, Joel
Obstructive Sleep Apnea in a Patient with Cornelia de Lange Syndrome
title Obstructive Sleep Apnea in a Patient with Cornelia de Lange Syndrome
title_full Obstructive Sleep Apnea in a Patient with Cornelia de Lange Syndrome
title_fullStr Obstructive Sleep Apnea in a Patient with Cornelia de Lange Syndrome
title_full_unstemmed Obstructive Sleep Apnea in a Patient with Cornelia de Lange Syndrome
title_short Obstructive Sleep Apnea in a Patient with Cornelia de Lange Syndrome
title_sort obstructive sleep apnea in a patient with cornelia de lange syndrome
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832399/
https://www.ncbi.nlm.nih.gov/pubmed/29507843
http://dx.doi.org/10.7759/cureus.1993
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