Lissencephaly syndrome (miller-dieker syndrome)

General: Autosomal recessive; consanguinity; association 848j97i with deletion of the LIS1 gene located at chromosome 17p13.

Ocular: Hypertelorism.

Clinical: Microcephaly; small mandible; bizarre facies; failure to thrive; retarded motor development; mental retardation; dysphagia; decorticated and decerebrate postures; polydactyly; malformations of brain, heart, kidneys, and other organs; spastic paraplegia; agyri-apachygyria; inverted gray-to-white matter ratio; absence of white-gray interdigitations; hypoplastic brainstem; characteristic facial dysmorphism.

Bobyns WB, et al. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA 1993; 270:2838-2842.

Dobyns WB, et al. The Miller-Dieker syndrome: lissencephaly and monosomy. J Pediatr 1983; 102:552-558.

Kuchelmeister K, et al. Neuropathology of lissencephalies. Childs Nerv Syst 1993; 9:394-399.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.