Marfan syndrome: orthopedic and genetic review.
Marfan syndrome is an autosomal dominant disorder of connective tissue that affects the cardiac, eye, and skeletal systems. More than 135 mutations have been identified in the fibrillin-1 gene, localized on chromosome 15q21.1 [corrected] and responsible for the clinical manifestations of Marfan syndrome. The major orthopedic manifestations of Marfan syndrome include scoliosis, chest wall deformity, dural ectasia, joint hypermobility, and acetabular protrusion. In addition, decreased bone mineral density has been reported in patients with Marfan syndrome. This review summarizes recent developments in the genetic and orthopedic aspects of Marfan syndrome. Increased practitioner awareness of the clinical features associated with Marfan syndrome may facilitate earlier diagnosis and optimize patient treatment.
Giampietro
Philip F
PF
Division of Genetics, Department of Pediatrics, Weill Medical College of Cornell University, USA. giampiep@mfldclin.edu
Raggio
Cathleen
C
Davis
Jessica G
JG
D000077:Acetabulum / Q000002:abnormalities; D015519:Bone Density; D004108:Dilatation, Pathologic; D004388:Dura Mater / Q000473:pathology; D000071838:Fibrillin-1; D000071837:Fibrillins; D005532:Foot Deformities, Congenital; D006618:Hip Dislocation, Congenital; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics / Q000503:physiopathology; D008840:Microfilament Proteins; D012600:Scoliosis; D013131:Spine / Q000002:abnormalities; D013909:Thorax / Q000002:abnormalities; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines