Brainstem dysgenesis: report of five patients with congenital hypotonia, multiple cranial nerve involvement, and ocular motor apraxia.

@article{Roig2003BrainstemDR,
  title={Brainstem dysgenesis: report of five patients with congenital hypotonia, multiple cranial nerve involvement, and ocular motor apraxia.},
  author={M Dolores G{\'o}mez Roig and Margarida Gratac{\'o}s and E. P{\'e}rez V{\'a}zquez and M de Los {\'A}ngeles Navarrete del Toro and Anton Foguet and Isidro Ferrer and Alfons Macaya},
  journal={Developmental medicine and child neurology},
  year={2003},
  volume={45 7},
  pages={489-93}
}
This paper reports three females and two males with a distinctive congenital syndrome characterized by severe congenital hypotonia, facial diplegia, jaw ankylosis, velo-pharyngeal incoordination, pyramidal tract signs, and ocular motor apraxia. Patients were followed up at ages ranging from 20 months to 16 years. All cases of this syndrome are sporadic, without dysmorphological features, chromosomal, or MRI brain abnormalities. Electrophysiological studies indicate the brainstem as the site of… CONTINUE READING

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