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Unknown syndrome: pachygyria, joint contractures, and facial abnormalities
R M Winter1, B N Harding, J Hyde
1Kennedy Galton Centre, Northwick Park Hospital, Harrow, Middlesex.
Journal of Medical Genetics
|December 1, 1989
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).