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Ehlers–Danlos Syndrome : an underdiagnosed condition

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 (Unpublished)

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Abstract

• 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.

Item Type: Conference or Workshop Item (Poster)
Additional Information: 6884/73924
Uncontrolled Keywords: Ehlers–Danlos Syndrome
Subjects: R Medicine > R Medicine (General)
R Medicine > RJ Pediatrics
Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button): Kulliyyah of Medicine > Department of Family Medicine (Effective: 1st January 2011)
Kulliyyah of Medicine
Depositing User: SR NUR FARHANA LATFI
Date Deposited: 20 Sep 2019 10:47
Last Modified: 20 Sep 2019 10:47
URI: http://irep.iium.edu.my/id/eprint/73924

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