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Miller-Dieker syndrome with ring chromosome 17.
  1. N Sharief,
  2. J Craze,
  3. D Summers,
  4. L Butler,
  5. C B Wood
  1. Department of Child Health, Queen Elizabeth Hospital for Children, London.

    Abstract

    A girl presented at 6 weeks of age with failure to thrive and arching of the back. She had various dysmorphic features, hepatosplenomegaly, and developmental delay. The electroencephalogram and cranial ultrasound were abnormal, and a computed tomogram showed lissencephaly and apparent agenesis of the corpus callosum. Because of frequent aspiration she became oxygen dependent. She later developed intractable convulsions and died at the age of 9 months.

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