Criado por Ellie Quinn
mais de 10 anos atrás
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FBN1 mutation Myopia Displacement of the lens (60%) Retinal detachment Glaucoma Cataracts Long limbs Sternum pushed in or out Scoliosis Dilatation, tear and rupture of the aorta
Diagnosis: Series of criteria Ectopia Lentis Aortic root enlargement Systemic score: calculated from various features Genetic testing is increasingly used
Evaluation following diagnosis: Ophthalmological Skeletal manifestations Echocardiography Genetics consultation Management: Eyes – glasses, can surgically remove and replace lens Surgical repair of aorta Monitor heart with frequent echocardiograms Avoid contact sports
Inheritance Autosomal dominant 75% inherited, 25% de novo
Clinical features
diagnosis
treatment
inheritance
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