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Cerebellar atrophy in a patient with velocardiofacial syndrome.
  1. D R Lynch,
  2. D M McDonald-McGinn,
  3. E H Zackai,
  4. B S Emanuel,
  5. D A Driscoll,
  6. L A Whitaker,
  7. K H Fischbeck
  1. Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, USA.

    Abstract

    Velocardiofacial syndrome and DiGeorge syndrome have not previously been associated with central nervous system degeneration. We report a 34 year old man who presented for neurological evaluation with cerebellar atrophy of unknown aetiology. On historical review, he had neonatal hypocalcaemia, an atrial septal defect, and a corrected cleft palate. His physical examination showed the characteristic facies of velocardiofacial syndrome as well as dysmetria and dysdiadocho-kinesia consistent with cerebellar degeneration. Molecular cytogenetic studies showed a deletion of 22q11.2. This man is the first reported patient with the association of a neurodegenerative disorder and 22q11.2 deletion syndrome.

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