Perrault syndrome: evidence for progressive nervous system involvement.

@article{Fiumara2004PerraultSE,
  title={Perrault syndrome: evidence for progressive nervous system involvement.},
  author={Agata Fiumara and Giovanni Sorge and Antonio Rafael Quintero Toscano and Enrico Parano and Lorenzo Pavone and John M Opitz},
  journal={American journal of medical genetics. Part A},
  year={2004},
  volume={128A 3},
  pages={
          246-9
        }
}
Perrault syndrome (PS) comprises gonadal dysgenesis and sensorineural deafness in females, and deafness in affected males. More recent studies have asked whether the neurological signs in some of the patients are a coincidental finding or part of the syndrome. We report on two pairs of sisters with gonadal dysgenesis and deafness, cerebral, and ocular involvement who developed a progressive, severe sensory, and motor neuropathy. This observation constitutes further evidence of peripheral… CONTINUE READING
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