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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. Journal of Family Medicine Forecast, 2 (102). ISSN 26437864

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Abstract

Failure to thrive is a common clinical presentation discovered during continuity of child care at primary care clinic1. The causes of failure to thrive are multifactorial which a challenge becomes in diagnostic process. Hence, the pitfall arises when there are overlapping causes whereby nutritional and psychosocial issues mask the suspicion of medical cause [1]. A well-looking child with failure to thrive is probably considered as normal variants of growth or having nutritional deficiency [2]. We highlighted a case report of a 4 years 9 month-old girl with red flag of failure to thrive who was recently diagnosed to have Ehlers-Danlos Syndrome Hypermobility type based on manifestation of classical signs with a positive Beighton score of eight [3]. She had unresolved failure to thrive after birth despite intervention, with all anthropometric criteria below expected for age and gender. Otherwise, she was asymptomatic and developmentally-age-appropriate. These provide a clue to evaluate for a pathological condition which leads to discovery of this undiagnosed syndrome. Even though there is no cure for Ehlers-Danlos Syndrome, a correct diagnosis helps for appropriate treatment plan to monitor potential complications and provide genetic counselling for the family [3].

Item Type: Article (Journal)
Additional Information: 6884/73938
Uncontrolled Keywords: Failure to thrive; Ehlers-Danlos syndrome hypermobility type
Subjects: R Medicine > R Medicine (General)
R Medicine > RA Public aspects of medicine
R Medicine > RC Internal medicine
R Medicine > RT Nursing
R Medicine > RZ Other systems of medicine
Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button): Kulliyyah of Medicine > Department of Family Medicine (Effective: 1st January 2011)
Depositing User: SR NUR FARHANA LATFI
Date Deposited: 29 Aug 2019 11:39
Last Modified: 18 Sep 2019 10:26
URI: http://irep.iium.edu.my/id/eprint/73938

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