This 2009 JAAOS review by Shirley and Sponseller covers the diagnosis and orthopedic management of Marfan syndrome — an autosomal dominant FBN1 mutation disorder — with emphasis on scoliosis behavior, dural ectasia, and protrusio acetabuli as the musculoskeletal manifestations most relevant to the orthopedic surgeon.
When you see a tall, thin adolescent with scoliosis, check for arachnodactyly, pectus deformity, and joint laxity — if Marfan syndrome is suspected, apply the Ghent nosology and refer to cardiology before planning any spinal surgery.
Expect bracing to fail, budget for high intraoperative blood loss, maximize fixation points to combat thin pedicles and osteopenia, and screen for dural ectasia as a source of unexplained back or perineal pain.
This 2009 JAAOS review by Shirley and Sponseller covers the diagnosis and orthopedic management of Marfan syndrome — an autosomal dominant FBN1 mutation disorder — with emphasis on scoliosis behavior, dural ectasia, and protrusio acetabuli as the musculoskeletal manifestations most relevant to the orthopedic surgeon.
When you see a tall, thin adolescent with scoliosis, check for arachnodactyly, pectus deformity, and joint laxity — if Marfan syndrome is suspected, apply the Ghent nosology and refer to cardiology before planning any spinal surgery.
Expect bracing to fail, budget for high intraoperative blood loss, maximize fixation points to combat thin pedicles and osteopenia, and screen for dural ectasia as a source of unexplained back or perineal pain.