Orthopaedic Aspects of Marfan Syndrome: The Experience ofa Referral Center for Diagnosis of Rare Diseases

Marfansyndromeiscausedbymutationsinthefibrillin-1gene(FBN1). The most important features affect the cardiovascular system,eyes, and skeleton. The aim of this study was to report the most frequent musculoskeletal alterations observed in 146 patients affectedby Marfan syndrome. Fifty-four patients (37%) underwentcardiac surgery and 11 of them received emergentsurgery for acuteaorticdissection. Ectopia lentis was found in 68 patients (47%) whereas myopia above 3D occurred in 46 patients (32%). Musculoskeletalanomalies were observed in all patients with Marfan syndrome. In 88 patients (60.2%), the associated “wrist and thumb sign” waspresent; in 58 patients (39.7%), pectus carinatum deformity; in 44 patients (30.1%), pectus excavatum; in 49 patients (33.5%), severeflatfoot; in 31 patients (21.2%), hindfoot deformity; in 54 patients (36.9%), reduced US/LS ratio or increased arm span-height ratio;in 37 patients (25.3%), scoliosis or thoracolumbar kyphosis; in 22 patients (15%), reduced elbow extension (170∘or less). Acetabularprotrusion was ascertained on radiographs in 27 patients (18.4%). Orthopaedic aspects of the disease are very important for anearly diagnosis; however, we have not observed definite correlations between the extent of orthopaedic involvement and aorticcomplications