Unknown syndrome: pachygyria, joint contractures, and facial abnormalities.

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).