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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iium-739242019-09-20T02:47:55Z http://irep.iium.edu.my/73924/ Ehlers–Danlos Syndrome : an underdiagnosed condition Cumarasamy, Rubini Mohd Hanafi, Mohd Sharil Iman Che Man, Mohammad 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, Mohammad (2019) Ehlers–Danlos Syndrome : an underdiagnosed condition. In: 22nd Family Medicine Scientific Conference 2019, 31st July-3rd August 2019, Kuching, Sarawak. (Unpublished) |
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language |
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R Medicine (General) RJ Pediatrics |
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R Medicine (General) RJ Pediatrics Cumarasamy, Rubini Mohd Hanafi, Mohd Sharil Iman Che Man, Mohammad 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, Mohammad |
author_facet |
Cumarasamy, Rubini Mohd Hanafi, Mohd Sharil Iman Che Man, Mohammad |
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/ 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 |
first_indexed |
2023-09-18T21:44:48Z |
last_indexed |
2023-09-18T21:44:48Z |
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1777413378759720960 |