Major signs are more specific for Marfan syndrome and are less commonly seen in the general population. Although pectus excavatum is an important skeletal feature, it does not count as a major criterion by itself. Skeletal manifestations are considered major signs when 4 out of 8 typical features are present. These features are pectus carinatum, pectus excavatum, reduced upper to lower segment ratio or arm span to height ratio greater than 1.05, wrist and thumb signs, scoliosis (> 20 degrees) or spondylolisthesis, reduced extensions at the elbows (< 170 degrees), medial displacement of the medial malleolus causing pes planus, and protrusio acetabulare of any degree ascertained on radiographs.
- Pectus excavatum.
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Seminars in Medical Practice
Hospital Physician Board Review Manuals
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Updated 1/04/08 kkjj