Lab notes
Wave shelves · perforated field sheets
Description
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Alpha-GST is present in both neurons and non-neuronal elements of the nervous system
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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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