Ehlers-Danlos Syndrome (TYPEI) with Mental Retardation -an Unusual Association (Reports on Two Brothers)
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Abstract:
Ehlers Danlos syndrome (EDS) is an inherited connective tissue disease due to impaired collagen metabolism. Joint hypermobility and skin hyper extensibility are the major findings. Six types of EDS are recognized. Type I or Gravis type is characterized by skin hyperextensibility, joint hypermobility, skin splitting autosoml dominancy inheritance, preterm premature rupture of membrane (PPROM) and varicose vein. Mental retardation has not been reported in the literature. Two cases of unusual type 1 EDS with joint deformity and mental retardation will be reported in this article.
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Journal title
volume 16 issue 4
pages 286- 288
publication date 2018-12
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