Marfan syndrome.
Marfan syndrome is a variable autosomal dominant disorder; most cases result from mutations of fibrillin-1. Diagnosis is guided by the Ghent nosology. The condition may manifest in the cardiovascular and ocular systems. Musculoskeletal manifestations include scoliosis, dural ectasia, protrusio acetabuli, and ligamentous laxity. Compared with patients with idiopathic scoliosis, patients with Marfan syndrome tend to have scoliosis that progresses at a faster rate and is more resistant to bracing; undergo scoliosis surgery complicated by greater blood loss, pseudarthrosis, and additional curvature; and have more frequent occurrences of dural ectasia, which may cause headaches, leg pain, or perineal pain. Protrusio acetabuli may result in hip joint arthritis and may require valgus osteotomy or total hip arthroplasty.
Shirley
Eric D
ED
Naval Medical Center Portsmouth, VA, USA.
Sponseller
Paul D
PD
D000077:Acetabulum / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000601:surgery; D002318:Cardiovascular Diseases / Q000209:etiology; D005128:Eye Diseases / Q000209:etiology; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D019637:Orthopedic Procedures; D011859:Radiography; D012600:Scoliosis / Q000000981:diagnostic imaging / Q000209:etiology / Q000601:surgery; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines