Unknown syndrome: pachygyria, joint contractures, and facial abnormalities.
AUTOR(ES)
Winter, R M
RESUMO
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).
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1015766Documentos Relacionados
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