Ehlers Danlos syndrome — masquerading as primary muscle disease

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Abstract
Summary: A 9 year old Libyan boy presented with a history of delayed walking and abnormal gait. The presence of marked muscle under-development with hypotonia led to the initial diagnosis of primary muscle disease; later, he was found to have hyperelastic, fragile skin and hypermobile joints-the cardinal features of Ehlers Danlos syndrome. In this instance the disease seems to have been inherited in an autosomal recessive manner.

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