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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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2019
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| Online Access: | http://irep.iium.edu.my/73938/ http://irep.iium.edu.my/73938/1/Dr.%20Mohd%20Aug%20EDS.pdf |
| _version_ | 1848787884593643520 |
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| 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 |
| building | IIUM Repository |
| collection | Online Access |
| 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]. |
| first_indexed | 2025-11-14T17:32:01Z |
| format | Article |
| id | iium-73938 |
| institution | International Islamic University Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-14T17:32:01Z |
| publishDate | 2019 |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | iium-739382022-05-10T02:43:02Z http://irep.iium.edu.my/73938/ Ehlers-Danlos Syndrome – an underdiagnosed condition Cumarasamy, Rubini Mohd Hanafi, Mohd Sharil Iman Che' Man, Mohamad 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, Mohamad (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 |
| 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, Mohamad Ehlers-Danlos Syndrome – an underdiagnosed condition |
| title | 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_short | Ehlers-Danlos Syndrome – an underdiagnosed condition |
| title_sort | ehlers-danlos syndrome – an underdiagnosed condition |
| topic | R Medicine (General) RA Public aspects of medicine RC Internal medicine RT Nursing RZ Other systems of medicine |
| 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 |