title: Anthropometric and body-mass composition suggests an intrinsic feature in Williams-Beuren syndrome.
abstract: OBJECTIVE
  Although considered a well-known condition, there is only one study describing the body composition among individuals with Williams-Beuren syndrome. The aim was to characterize the nutritional status in Brazilian individuals with this condition.
  
  
  METHODS
  Cross-sectional study was designed to evaluate clinical and nutritional data of 17 Brazilian patients. Z-scores for height, weight, body mass index, triceps and subscapular skinfold thickness, arm circumference, arm muscle area, arm fat area were calculated. Wilcoxon's test was used to investigate differences between the z-scores of the anthropometrical measures and zero.
  
  
  RESULTS
  Four children were considered stunted and two severely malnourished. The z-score mean value for height was -1.14 ± 1.00 (p-value = 0.004), for weight, -0.67 ± 1.19 (p-value = 0.0443), for arm circumference, -0.94 ± 1.14 (p-value = 0.0222), for triceps skinfold thickness, -0.59 ± 0.63 (p-value = 0.0042) and for arm fat area -0.67 ± 0.67 (p-value = 0.0061).
  
  
  CONCLUSIONS
  Short stature seen in this series confirms a previous study describing this feature in a German population, which would suggest it as an intrinsic feature in Williams-Beuren syndrome. In addition, skinfold thickness measures have not been previously performed in this syndrome and detected abnormalities in fat stores in this sample. Considering this method a fast and low-cost way to evaluate body composition, similar studies could be performed in other populations in order to better characterize this issue. Morbidity related with this genetics condition and information for clinical investigation and clinical follow-up are also discussed.
authors.affiliation: Department of Medical Genetics, Faculdade de Ciências Médicas, Universidade de Campinas (FCM–UNICAMP), Campinas, São Paulo, SP, Brazil
authors.forename: Roberto José Negrão
authors.initials: RJ
authors.lastname: Nogueira
authors.forename: Leonardo Ferreira
authors.initials: LF
authors.lastname: Zimmerman
authors.forename: Yara Maria Franco
authors.initials: YM
authors.lastname: Moreno
authors.forename: Cláudia Regina
authors.initials: CR
authors.lastname: Comparini
authors.forename: Danilo Viela
authors.initials: DV
authors.lastname: Viana
authors.forename: Tarsis Antonio Paiva
authors.initials: TA
authors.lastname: Vieira
authors.forename: Carlos Eduardo
authors.initials: CE
authors.lastname: Steiner
authors.forename: Vera Lúcia
authors.initials: VL
authors.lastname: Gil-da-Silva-Lopes
mesh_terms: D000293:Adolescent; D001823:Body Composition; D001827:Body Height; D049628:Body Size; D001835:Body Weight; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D008297:Male; D044342:Malnutrition / Q000209:etiology* / Q000503:physiopathology; D009752:Nutritional Status; D012885:Skinfold Thickness; D018980:Williams Syndrome / Q000150:complications* / Q000503:physiopathology