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Down syndrome with co-occurring Marfan syndrome

Down syndrome (DS) and Marfan syndrome (MFS) are two unique genetic disorders that share limited phenotypic overlap. There are very few reported cases in the existing literature on overlapping DS and MFS. Although these two disorders are phenotypically unique, features present in these cases are var...

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Autores principales: Wei, Miao, Lepore, Natasha, Paulsen, Kelli, Santoro, Jonathan D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7513568/
https://www.ncbi.nlm.nih.gov/pubmed/32967946
http://dx.doi.org/10.1136/bcr-2020-235988
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author Wei, Miao
Lepore, Natasha
Paulsen, Kelli
Santoro, Jonathan D
author_facet Wei, Miao
Lepore, Natasha
Paulsen, Kelli
Santoro, Jonathan D
author_sort Wei, Miao
collection PubMed
description Down syndrome (DS) and Marfan syndrome (MFS) are two unique genetic disorders that share limited phenotypic overlap. There are very few reported cases in the existing literature on overlapping DS and MFS. Although these two disorders are phenotypically unique, features present in these cases are variable, resulting in mixed and dominant expressions of particular features. We present the first adolescent case of trisomy 21 associated DS and fibrillin-1 gene associated MFS in the literature who had a height at 90th percentile for an 11-year old boy and discuss the implications of this case in terms of future medical care when these two genetic syndromes are present in the same individual. Understanding of certain features of the ‘non-dominating’ syndrome is crucial for clinicians to recognise when DS co-occurs with MFS. Close monitoring of the cardiovascular, ophthalmologic and musculoskeletal systems is recommended if both syndromes are diagnosed given that both can be independently associated with disorders in these organ systems.
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spelling pubmed-75135682020-10-05 Down syndrome with co-occurring Marfan syndrome Wei, Miao Lepore, Natasha Paulsen, Kelli Santoro, Jonathan D BMJ Case Rep Rare Disease Down syndrome (DS) and Marfan syndrome (MFS) are two unique genetic disorders that share limited phenotypic overlap. There are very few reported cases in the existing literature on overlapping DS and MFS. Although these two disorders are phenotypically unique, features present in these cases are variable, resulting in mixed and dominant expressions of particular features. We present the first adolescent case of trisomy 21 associated DS and fibrillin-1 gene associated MFS in the literature who had a height at 90th percentile for an 11-year old boy and discuss the implications of this case in terms of future medical care when these two genetic syndromes are present in the same individual. Understanding of certain features of the ‘non-dominating’ syndrome is crucial for clinicians to recognise when DS co-occurs with MFS. Close monitoring of the cardiovascular, ophthalmologic and musculoskeletal systems is recommended if both syndromes are diagnosed given that both can be independently associated with disorders in these organ systems. BMJ Publishing Group 2020-09-23 /pmc/articles/PMC7513568/ /pubmed/32967946 http://dx.doi.org/10.1136/bcr-2020-235988 Text en © BMJ Publishing Group Limited 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.
spellingShingle Rare Disease
Wei, Miao
Lepore, Natasha
Paulsen, Kelli
Santoro, Jonathan D
Down syndrome with co-occurring Marfan syndrome
title Down syndrome with co-occurring Marfan syndrome
title_full Down syndrome with co-occurring Marfan syndrome
title_fullStr Down syndrome with co-occurring Marfan syndrome
title_full_unstemmed Down syndrome with co-occurring Marfan syndrome
title_short Down syndrome with co-occurring Marfan syndrome
title_sort down syndrome with co-occurring marfan syndrome
topic Rare Disease
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7513568/
https://www.ncbi.nlm.nih.gov/pubmed/32967946
http://dx.doi.org/10.1136/bcr-2020-235988
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