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Ehlers Danlos syndrome--masquerading as primary muscle disease.
  1. G. Banerjee,
  2. R. K. Agarwal,
  3. N. M. Shembesh,
  4. M. el Mauhoub
  1. Department of Pediatrics, Faculty of Medicine, Al-Arab Medical University, Benghazi, Libya.

    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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