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Major Criteria Congenital multiple contractures, characteristically adduction-flexion contractures and/or talipes equinovarus (clubfoot) Characteristic craniofacial features, which are evident at birth or in early infancy Characteristic cutaneous features including skin hyperextensibility, easy bruisability, skin fragility with atrophic scars, increased palmar wrinkling Minor Criteria Recurrent/chronic dislocations Pectus deformities (flat, excavated) Spinal deformities (scoliosis, kyphoscoliosis) Peculiar fingers (tapering, slender, cylindrical) Progressive talipes deformities (valgus, planus, cavum) Large subcutaneous hematomas Chronic constipation Colonic diverticula Pneumothorax/ pneumohemothorax Nephrolithiasis/cystolithiasis Hydronephrosis Cryptorchidism in males Strabismus Refractive errors (myopia, astigmatism) Glaucoma/elevated intraocular pressure Myopathic EDS (mEDS) If a person meets the diagnostic criteria for mEDS, genetic testing should be done to confirm the diagnosis
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Neuroscience (2011) 185:97105.10.1016/j.neuroscience.2011.04.041 80 NguyenDAlaviMVKimK-YKangTScottRTNohYHet alA new vicious cycle involving glutamate excitotoxicity, oxidative stress and mitochondrial dynamics
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10.1016/j.biomaterials.2012.12.009 [DOI] [PubMed] [Google Scholar] Charlier E., Deroyer C., Ciregia F., Malaise O., Neuville S., Plener Z., et al
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