Abstract
Background: Foot problems are common in patients with Marfan syndrome because of the ligamentous laxity that affects the weightbearing joints most. Such patients frequently are seen by their general practitioners or podiatrists. Educating primary health care providers about a metatarsal index, if it is sufficiently sensitive and specific, may help patients get early and appropriate workup for connective tissue disorders. Methods: A metatarsal equivalent to the metacarpal index (MCI) in the hand was evaluated as a diagnostic tool for Marfan syndrome (and possibly other connective tissue disorders). Fifty-six patients were studied. Sixteen had a genetic diagnosis of Marfan syndrome. There were 20 controls each for the MCI and the metatarsal index (MTI). Hand and foot radiographs were reviewed.Results: The average MCI in patients with Marfan syndrome was 9.8 compared to 7.6 in the control group (p < 0.0005). The average MTI was 12.7 and 9.8, respectively (p < 0.0005). An MCI value of 8.5 and an MTI value of 10.5 had the best statistical profiles (combination of sensitivity and specificity) in diagnosing Marfan syndrome in our study population. Conclusion: The MTI as a screening tool for Marfan syndrome is as effective as, if not more than, the well-recognized MCI.
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