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Postgraduate Medical Journal logoLink to Postgraduate Medical Journal
. 1988 Feb;64(748):126–127. doi: 10.1136/pgmj.64.748.126

Ehlers Danlos syndrome--masquerading as primary muscle disease.

G Banerjee 1, R K Agarwal 1, N M Shembesh 1, M el Mauhoub 1
PMCID: PMC2428786  PMID: 3174522

Abstract

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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