Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome

Coffin-Lowry syndrome is expressed as different phenotypes in males and females. In males, it is characterized by facial abnormalities, marked developmental disability, and skeletal changes. Approximately 80% of cases are associated with kyphoscoliosis, which can be quite severe, as seen in our pati...

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Detalles Bibliográficos
Autores principales: Venter, Frederick, Evans, Andrew, Fontes, Claudia, Stewart, Carol
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350156/
https://www.ncbi.nlm.nih.gov/pubmed/30791716
http://dx.doi.org/10.1177/2324709618820660
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author Venter, Frederick
Evans, Andrew
Fontes, Claudia
Stewart, Carol
author_facet Venter, Frederick
Evans, Andrew
Fontes, Claudia
Stewart, Carol
author_sort Venter, Frederick
collection PubMed
description Coffin-Lowry syndrome is expressed as different phenotypes in males and females. In males, it is characterized by facial abnormalities, marked developmental disability, and skeletal changes. Approximately 80% of cases are associated with kyphoscoliosis, which can be quite severe, as seen in our patient, causing paraplegia and restrictive lung disease. In this article, we present the third oldest documented male case of Coffin-Lowry syndrome with severe kyphoscoliosis, paraplegia, and restrictive lung disease.
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spelling pubmed-63501562019-02-06 Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome Venter, Frederick Evans, Andrew Fontes, Claudia Stewart, Carol J Investig Med High Impact Case Rep Case Report Coffin-Lowry syndrome is expressed as different phenotypes in males and females. In males, it is characterized by facial abnormalities, marked developmental disability, and skeletal changes. Approximately 80% of cases are associated with kyphoscoliosis, which can be quite severe, as seen in our patient, causing paraplegia and restrictive lung disease. In this article, we present the third oldest documented male case of Coffin-Lowry syndrome with severe kyphoscoliosis, paraplegia, and restrictive lung disease. SAGE Publications 2019-01-15 /pmc/articles/PMC6350156/ /pubmed/30791716 http://dx.doi.org/10.1177/2324709618820660 Text en © 2019 American Federation for Medical Research http://creativecommons.org/licenses/by/4.0/ This article is distributed under the terms of the Creative Commons Attribution 4.0 License (http://www.creativecommons.org/licenses/by/4.0/) which permits any use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Venter, Frederick
Evans, Andrew
Fontes, Claudia
Stewart, Carol
Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome
title Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome
title_full Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome
title_fullStr Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome
title_full_unstemmed Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome
title_short Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome
title_sort severe restrictive lung disease in one of the oldest documented males with coffin-lowry syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350156/
https://www.ncbi.nlm.nih.gov/pubmed/30791716
http://dx.doi.org/10.1177/2324709618820660
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