Most Useful Marfan Syndrome Diagnostic Criteria Identified

Craniofacial, palate structure, thumb and wrist, and back signs most indicative of Marfan
By Jeff Muise
HealthDay Reporter

THURSDAY, Aug. 12 (HealthDay News) -- While features of Marfan syndrome can be found in the general population, clinicians should be alert for craniofacial, thumb and wrist, and other indicators that are highly specific to the condition, according to a study in the Aug. 4 issue of the Journal of Bone & Joint Surgery.

Paul D. Sponseller, M.D., of Johns Hopkins University in Baltimore, and colleagues studied 183 patients with identified Marfan syndrome and 1,257 orthopedic patients and family members without Marfan. For the Marfan patients, they recorded age at time of recognition and the methods by which the syndrome was recognized, and then used Ghent criteria to identify radiographically and physically evident features. For the non-Marfan group, they looked for Ghent criteria that could be noted by radiographs, physical exam, or routine history.

The researchers found that 27 percent of the Marfan patients had major skeletal involvement, while 19 percent had one or no skeletal features of the condition. The most common physical features in the Marfan patients were craniofacial characteristics, high-arched palate, positive thumb and wrist signs, and scoliosis. Meanwhile, in the non-Marfan group, 83 percent had one skeletal feature, 13 percent had two, and 4 percent had three or more. Craniofacial characteristics, thumb and wrist signs, pectus excavatum, and severe hindfoot valgus yielded most Marfan diagnoses.

"Musculoskeletal clinicians should be aware of the diagnostic features of Marfan syndrome. Patients with three to four physically evident features, or two highly specific features (e.g., thumb and wrist signs, craniofacial features, dural ectasia, or protrusio), should be carefully reexamined and possibly referred for an echocardiogram or a genetics consultation," the authors conclude.

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