[Cerebellar vermis hypoplasia with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes].

@article{Graber2001CerebellarVH,
  title={[Cerebellar vermis hypoplasia with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes].},
  author={Denis Graber and Corinne Antignac and Georges Desch{\^e}nes and A Coulin and Y Hermouet and J. M. Pedespan and Daniel Fontan and G{\'e}rard Ponsot},
  journal={Archives de pediatrie : organe officiel de la Societe francaise de pediatrie},
  year={2001},
  volume={8 2},
  pages={186-90}
}
UNLABELLED Congenital cerebellar vermis hypoplasias diversely associated with retinopathy, nephropathy and hepatopathy are rare syndromes of uncertain nosology. We report three new cases. CASE REPORTS Case 1. A 3-month-old boy presented a brief nystagmus. At the age of 2 years, he had facial dysmorphia, hypotonia, ataxia, ocular motor apraxia and neurodevelopmental impairment with cerebellar vermis hypoplasia. The electroretinogram showed asymptomatic retinal involvement. At the age of 6… CONTINUE READING

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