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Clinics (Sao Paulo). 2014 Jul;69(7):452-6.

Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center.

Author information

  • 1Department of Orthopaedics and Traumatology, Spine Surgery Division, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (IOT-HCFMUSP), São Paulo, SP, Brazil.
  • 2Instituto de Ortopedia e Traumatologia, Spine Division, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (IOT-HCFMUSP), São Paulo, SP, Brazil.
  • 3Instituto 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.

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.

CONCLUSION:

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.

PMID:
25029575
[PubMed - in process]
PMCID:
PMC4081883
Free PMC Article
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