Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.
Lissencephaly (smooth-brain) is an abnormality of brain development characterized by incomplete neuronal migration and a smooth cerebral surface. At least 2, and possibly more, distinct pathological types occur, each associated with several distinct syndromes. In this paper, the manifestations of 3 disorders associated with type I (classical) lissencephaly are discussed, including the Miller-Dieker syndrome with or without deficiency of 17p13, Norman-Roberts syndrome, and isolated lissencephaly sequence.
D000015:Abnormalities, Multiple / Q000235:genetics; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D005500:Follow-Up Studies; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics* / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology; D010641:Phenotype