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Lethal olivopontoneocerebellar hypoplasia with dysmorphic features in sibs.
  1. I D Young,
  2. P A McKeever,
  3. M V Squier,
  4. J Grant
  1. Department of Clinical Genetics, City Hospital, Nottingham.


    This report describes the clinical and neuropathological features in male and female sibs who died shortly after birth as a result of frequent convulsions and lack of spontaneous respiratory effect. Both sibs had a prominent occiput with mild contractures and the female also had overlapping fingers and rockerbottom feet. The genetic and neuropathological findings were consistent with a diagnosis of an autosomal recessive form of olivopontoneocerebellar hypoplasia/atrophy.

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