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Unknown syndrome: pachygyria, joint contractures, and facial abnormalities.
  1. R M Winter,
  2. B N Harding,
  3. J Hyde
  1. Kennedy Galton Centre, Northwick Park Hospital, Harrow, Middlesex.

    Abstract

    A male infant, the offspring of a father-daughter mating, is described. He had a lethal condition consisting of brachycephaly, large fontanelles, a flat face, a small nose with thin nares, hypertelorism, small ears with cystic pinnae, camptodactyly, talipes equinovarus, and hypoplastic lungs and kidneys. The brain was very short in the anterior-posterior diameter with simplified broad convolutions (a form of pachygyria).

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