Ehlers–Danlos Syndrome : an underdiagnosed condition

• Failure to thrive is a common clinical presentation that is usually discovered during routine child visit at primary care clinic. • The pitfall arises when there are overlapping causes in which nutritional and psychosocial issues mask the suspicion of medical cause. • A well-looking child with...

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Main Authors: Cumarasamy, Rubini, Mohd Hanafi, Mohd Sharil Iman, Che' Man, Mohamad
Format: Conference or Workshop Item
Language:English
English
Published: 2019
Subjects:
Online Access:http://irep.iium.edu.my/73924/1/Dr%20Mohammad%20July%202019.pdf
http://irep.iium.edu.my/73924/6/Aug%20Dr.%20Mohd%20POSTER%20EDS.pdf
http://irep.iium.edu.my/73924/
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Institution: Universiti Islam Antarabangsa Malaysia
Language: English
English
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spelling my.iium.irep.739242022-05-10T03:20:11Z http://irep.iium.edu.my/73924/ Ehlers–Danlos Syndrome : an underdiagnosed condition Cumarasamy, Rubini Mohd Hanafi, Mohd Sharil Iman Che' Man, Mohamad R Medicine (General) RJ Pediatrics • Failure to thrive is a common clinical presentation that is usually discovered during routine child visit at primary care clinic. • The pitfall arises when there are overlapping causes in which nutritional and psychosocial issues mask the suspicion of medical cause. • A well-looking child with failure to thrive is considered as normal variants of growth or having nutritional deficiency without proper assessment. • Ehlers-Danlos Syndrome (EDS) is a clinically and genetically heterogeneous group of hereditary connective tissue disorders (HCTD) that involves a genetic defect in collagen and connective tissue synthesis and structure5. It is generally characterised by joint hypermobility, skin hyperextensibility and tissue fragility. • Despite being a genetic disorder either by autosomal dominant or recessive, the established diagnosis is usually delayed during adolescent or adulthood. • The International EDS Consortium 2017 proposed a revised EDS classification which recognized 13 subtypes with distinct set of clinical criteria. 2019 Conference or Workshop Item NonPeerReviewed application/pdf en http://irep.iium.edu.my/73924/1/Dr%20Mohammad%20July%202019.pdf application/pdf en http://irep.iium.edu.my/73924/6/Aug%20Dr.%20Mohd%20POSTER%20EDS.pdf Cumarasamy, Rubini and Mohd Hanafi, Mohd Sharil Iman and Che' Man, Mohamad (2019) Ehlers–Danlos Syndrome : an underdiagnosed condition. In: 22nd Family Medicine Scientific Conference 2019, 31st July-3rd August 2019, Kuching, Sarawak. (Unpublished)
institution Universiti Islam Antarabangsa Malaysia
building IIUM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider International Islamic University Malaysia
content_source IIUM Repository (IREP)
url_provider http://irep.iium.edu.my/
language English
English
topic R Medicine (General)
RJ Pediatrics
spellingShingle R Medicine (General)
RJ Pediatrics
Cumarasamy, Rubini
Mohd Hanafi, Mohd Sharil Iman
Che' Man, Mohamad
Ehlers–Danlos Syndrome : an underdiagnosed condition
description • Failure to thrive is a common clinical presentation that is usually discovered during routine child visit at primary care clinic. • The pitfall arises when there are overlapping causes in which nutritional and psychosocial issues mask the suspicion of medical cause. • A well-looking child with failure to thrive is considered as normal variants of growth or having nutritional deficiency without proper assessment. • Ehlers-Danlos Syndrome (EDS) is a clinically and genetically heterogeneous group of hereditary connective tissue disorders (HCTD) that involves a genetic defect in collagen and connective tissue synthesis and structure5. It is generally characterised by joint hypermobility, skin hyperextensibility and tissue fragility. • Despite being a genetic disorder either by autosomal dominant or recessive, the established diagnosis is usually delayed during adolescent or adulthood. • The International EDS Consortium 2017 proposed a revised EDS classification which recognized 13 subtypes with distinct set of clinical criteria.
format Conference or Workshop Item
author Cumarasamy, Rubini
Mohd Hanafi, Mohd Sharil Iman
Che' Man, Mohamad
author_facet Cumarasamy, Rubini
Mohd Hanafi, Mohd Sharil Iman
Che' Man, Mohamad
author_sort Cumarasamy, Rubini
title Ehlers–Danlos Syndrome : an underdiagnosed condition
title_short Ehlers–Danlos Syndrome : an underdiagnosed condition
title_full Ehlers–Danlos Syndrome : an underdiagnosed condition
title_fullStr Ehlers–Danlos Syndrome : an underdiagnosed condition
title_full_unstemmed Ehlers–Danlos Syndrome : an underdiagnosed condition
title_sort ehlers–danlos syndrome : an underdiagnosed condition
publishDate 2019
url http://irep.iium.edu.my/73924/1/Dr%20Mohammad%20July%202019.pdf
http://irep.iium.edu.my/73924/6/Aug%20Dr.%20Mohd%20POSTER%20EDS.pdf
http://irep.iium.edu.my/73924/
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