title: Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center.
abstract: OBJECTIVE
  This study assessed the prevalence of scoliosis and the patterns of scoliotic curves in patients with Williams-Beuren syndrome. Williams-Beuren syndrome is caused by a chromosome 7q11.23 deletion in a region containing 28 genes, with the gene encoding elastin situated approximately at the midpoint of the deletion. Mutation of the elastin gene leads to phenotypic changes in patients, including neurodevelopmental impairment of varying degrees, characteristic facies, cardiovascular abnormalities, hypercalcemia, urological dysfunctions, and bone and joint dysfunctions.
  
  
  METHODS
  A total of 41 patients diagnosed with Williams-Beuren syndrome, who were followed up at the genetics ambulatory center of a large referral hospital, were included in the study. There were 25 male subjects. The patients were examined and submitted to radiographic investigation for Cobb angle calculation.
  
  
  RESULTS
  It was observed that 14 patients had scoliosis; of these 14 patients, 10 were male. The pattern of deformity in younger patients was that of flexible and simple curves, although adults presented with double and triple curves. Statistical analysis showed no relationships between scoliosis and age or sex.
  
  
  CONCLUSIONS
  This study revealed a prevalence of scoliosis in patients with Williams-Beuren syndrome of 34.1%; however, age and sex were not significantly associated with scoliosis or with the severity of the curves.
authors.affiliation: Department of Orthopaedics and Traumatology, Spine Surgery Division, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (IOT-HCFMUSP), São Paulo, SP, Brazil.
authors.forename: Marcelo Loquette
authors.initials: ML
authors.lastname: Damasceno
authors.affiliation: Instituto de Ortopedia e Traumatologia, Spine Division, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (IOT-HCFMUSP), São Paulo, SP, Brazil.
authors.forename: Alexandre Fogaça
authors.initials: AF
authors.lastname: Cristante
authors.affiliation: Instituto de Ortopedia e Traumatologia, Spine Division, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (IOT-HCFMUSP), São Paulo, SP, Brazil.
authors.forename: Raphael Martus
authors.initials: RM
authors.lastname: Marcon
authors.affiliation: Instituto de Ortopedia e Traumatologia, Departamento de Ortopedia e Traumatologia, Disciplina de Ortopedia Geral, Grupo de Oncologia Ortopédica, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (IOT-HCFMUSP), São Paulo, SP, Brazil.
authors.forename: Tarcísio Eloy Pessoa de
authors.initials: TE
authors.lastname: Barros Filho
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001938:Brazil / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D003430:Cross-Sectional Studies; D004549:Elastin / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D015999:Multivariate Analysis; D015995:Prevalence; D012600:Scoliosis / Q000453:epidemiology* / Q000235:genetics; D012737:Sex Factors; D018980:Williams Syndrome / Q000150:complications*; D055815:Young Adult
chemical_list: D004549:Elastin