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Article

Classic Ehlers-Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1.

BMC pediatrics - 27 Oct 2020

Chiu Wei-Ching, Chen Shu-Huey, Lo Mei-Chen, Kuo Yung-Ting

Abstract excerpt

BACKGROUND: Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by skin hyperextensibility, joint hypermobility and soft tissue vulnerable to blunt injury. Early recognition and diagnosis are crucial to patients to provide appropriate treatment, as well as to screen for life-threatening conditions such as aortic dissection and hollow organ perforation. The diagnosis of...

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PMID: 33109150
DOI: 10.1186/s12887-020-02386-1
PMCID: PMC7590603

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