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학습 자료 둘러보기 →The most characteristic skeletal finding is a tall, thin body habitus with disproportionately long arms and legs (dolichostenomelia). This results from FBN1 gene mutations affecting long bone growth.
Additional skeletal signs include arachnodactyly (long, spider-like fingers), pectus excavatum or carinatum, scoliosis, and a reduced upper-to-lower segment ratio. Diagnosis is supported by the revised Ghent criteria.
Do not confuse the tall stature of Marfan syndrome with the short stature and webbed neck of Turner syndrome. Also, Marfan patients typically present with joint hypermobility, not contractures.
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