title: Anthropometric and musculoskeletal assessment of patients with Marfan syndrome.
abstract: BACKGROUND
  Marfan syndrome (MS) is an autosomic dominant condition of the connective tissue that involves the ocular, cardiovascular and musculoskeletal systems. MS is caused by mutations in the fibrillin-1 gene, leading to joint ligaments flaccidity, joint hypermobility and an overgrowth of the long bones.
  
  
  OBJECTIVE
  The aim of the present study was to assess anthropometry, musculoskeletal alterations and the prevalence of physical therapy treatments among patients with MS.
  
  
  METHODS
  Twenty-six patients were included in this study [17 females (age: 13.23±2.77 years; body mass 51.5±24-68 Kg; height 1.70±1.40-1.81 m; arm span: 1.73±0.12 m) and 9 males (age: 14.44±2.18; body mass: 61.0±42-72 Kg; height: 1.83±1.66-1.97 m; arm span: 1.93±0.13 m)]. Anthropometric measurements and musculoskeletal abnormalities were determined in a standardized fashion: pectus and scoliosis were assessed through radiography and angulation (â) of the scoliosis curve using the Cobb method; arachnodactyly was assessed through the thumb sign and Walker-Murdoch test and dolichostenomelia was assessed by arm span in relation to height. Patients also responded to a questionnaire addressing participation in physical therapy.
  
  
  RESULTS
  In comparison to values estimated for the Brazilian population, mass and height were greater among the patients with MS (females: p=0.001 e p<0.0005 e males p=0.019 e p=0.0001, respectively). The following musculoskeletal abnormalities were found: pectus in 3 patients (11%), pectus and scoliosis in 19 (73%), dolichostenomelia in 11 (42%) and arachnodactyly in 21 (80%). Eleven patients (42%) with MS had previously undergone physical therapy.
  
  
  CONCLUSIONS
  Patients with MS exhibit altered musculoskeleto and anthropometry and have infrequent physical therapy treatment.
authors.affiliation: Department of Medicine, Universidade Federal de São Paulo, São Paulo, SP, Brazil. grafb@uol.com.br
authors.forename: Graziella F B
authors.initials: GF
authors.lastname: Cipriano
authors.forename: Guilherme C
authors.initials: GC
authors.lastname: Brech
authors.forename: Paulo A T
authors.initials: PA
authors.lastname: Peres
authors.forename: Cássia C
authors.initials: CC
authors.lastname: Mendes
authors.forename: Gerson
authors.initials: G
authors.lastname: Cipriano
authors.forename: Antônio C C
authors.initials: AC
authors.lastname: Carvalho
mesh_terms: D000293:Adolescent; D000886:Anthropometry; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000628:therapy; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis*; D026741:Physical Therapy Modalities