Ruvalcaba syndrome: a case report

  title={Ruvalcaba syndrome: a case report},
  author={Elena Bianchi and Chiara Livieri and Maurizio Aric{\`o} and Elena Cattaneo and Alessandro Podest{\`a} and Giampiero Beluffi},
  journal={European Journal of Pediatrics},
An 11-year-old child with mental retardation and short stature was examined and found to be affected with some skeletal malformations. The clinical and radiological pattern of limb alterations was particularly suggestive of the features of Ruvalcaba syndrome. A complete examination confirmed the diagnosis and showed ocular involvement. To the best of our… CONTINUE READING