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Pectus excavatum Marfan's syndrome

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Marfan syndrome

Symptoms: Family history of Marfan syndrome Long, lanky frame Long, thin limbs Armspan significantly greater than body height Long, spidery fingers (arachnodactyly) Funnel chest (pectus excavatum ) or pigeon breast (pectus carinatum ) Scoliosis Visual difficulties Flat feet Learning disability/school problems Thin, narrow face Micrognathia (small lower jaw) Coloboma of iris Hypotonia Signs and tests: A physical examination may show: Joint laxity (hypermobile joints ) Myopia (nearsightedness) Dislocation of lens (ectopia lentis) Malformed cornea (flat) Retinal detachment There may also be signs of: Dilated aortic root Aortic regurgitation Dissecting aortic aneurysm Mitral valve prolapse Other aortic aneurysms (thoracic or abdominal) Pneumothorax (collapsed lung) The following tests may be performed: Echocardiogram Eye examination Fibrillin-1 mutation testing (in some individuals) Text Continues Below

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