Meckel Syndrome (Dysencephalia Schnocystic Syndrome; Gruber Syndrome) 7
General: Autosomal recessive; ocular manifestations are similar to those of trisomy 555c22f 13-l5 syndrome.
Ocular: Cryptophthalmos; clinical anophthalmos; microphthalmos; mongoloid slant of lid fissures; sclerocornea; microcornea; partial aniridia; cataract; retinal dysplasia; posterior staphyloma; optic nerve hypoplasia.
Clinical: Sloping forehead; posterior encephalocele; short neck; polydactyly and syndactyly (hands and feet); polycystic kidneys; cryptorchidism; cleft lip and palate; central nervous system abnormalities, including the Dandy-Walker malformation.
Herriot R, et al. Dandy-Walker malformation in the Meckel syndrome. Am J Med Genet 1991; 39:207-210.
MacRae DW, et al. Ocular manifestations of the Meckel syndrome. Arch Ophthalmol 1972; 88:106.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th 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/.
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