Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study.

@article{Silva2015ClinicalAC,
  title={Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study.},
  author={Alessandra Pawelec da Silva and Rafael Rosa and Patr{\'i}cia Trevisan and Juliana Cavalheiro Dorneles and Camila Saporiti Mesquita and Vinicius Freitas de Mattos and Giorgio Adriano Paskulin and Paulo R G Zen},
  journal={Sao Paulo medical journal = Revista paulista de medicina},
  year={2015},
  volume={133 3},
  pages={191-8}
}
CONTEXT AND OBJECTIVE Oculo-auriculo-vertebral spectrum (OAVS) is considered to be a defect of embryogenesis involving structures originating from the first branchial arches. Our objective was to describe the clinical and cytogenetic findings from a sample of patients with the phenotype of OAVS. DESIGN AND SETTING Cross-sectional study in a referral hospital in southern Brazil. METHODS The sample consisted of 23 patients who presented clinical findings in at least two of these four areas… CONTINUE READING