Ehlers-Danlos Syndrome – an underdiagnosed condition

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...

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Main Authors:	Cumarasamy, Rubini, Mohd Hanafi, Mohd Sharil Iman, Che Man, Mohammad
Format:	Article
Language:	English
Published:	2019
Subjects:	R Medicine (General) RA Public aspects of medicine RC Internal medicine RT Nursing RZ Other systems of medicine
Online Access:	http://irep.iium.edu.my/73938/ http://irep.iium.edu.my/73938/ http://irep.iium.edu.my/73938/1/Dr.%20Mohd%20Aug%20EDS.pdf

id	iium-73938
recordtype	eprints
spelling	iium-739382020-01-09T17:41:06Z http://irep.iium.edu.my/73938/ Ehlers-Danlos Syndrome – an underdiagnosed condition Cumarasamy, Rubini Mohd Hanafi, Mohd Sharil Iman Che Man, Mohammad R Medicine (General) RA Public aspects of medicine RC Internal medicine RT Nursing RZ Other systems of medicine 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]. 2019-08-12 Article PeerReviewed application/pdf en http://irep.iium.edu.my/73938/1/Dr.%20Mohd%20Aug%20EDS.pdf 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 (2). pp. 1-3. ISSN 2643-7864 https://scienceforecastoa.com/Articles/JFM-V2-E2-1020.pdf
repository_type	Digital Repository
institution_category	Local University
institution	International Islamic University Malaysia
building	IIUM Repository
collection	Online Access
language	English
topic	R Medicine (General) RA Public aspects of medicine RC Internal medicine RT Nursing RZ Other systems of medicine
spellingShingle	R Medicine (General) RA Public aspects of medicine RC Internal medicine RT Nursing RZ Other systems of medicine 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 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].
format	Article
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/73938/ http://irep.iium.edu.my/73938/ http://irep.iium.edu.my/73938/1/Dr.%20Mohd%20Aug%20EDS.pdf
first_indexed	2023-09-18T21:44:49Z
last_indexed	2023-09-18T21:44:49Z
_version_	1777413379783131136

Ehlers-Danlos Syndrome – an underdiagnosed condition

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