Knobloch Syndrome 6
General: Autosomal recessive; retinal detachment w 616i89g ith occipital encephalocele.
Ocular: High myopia; retinal detachment; vitreoretinal degeneration; persistent papillary membrane; posterior vitreous detachment; retinochoroidal staphylomas.
Clinical: Occipital encephalocele; normal intelligence; congenital midline scalp defect; unusual tar creases.
Cohen MM, et al. Syndrome with cephalocele. Teratology 1982; 25:161-l72.
Duh EJ, Yao YL, Dagll M, et al. Persistance of fetal vasculature in a patient with Knobloch syndrome. Ophthalmology 2004; 111: 1885-l888.
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/.
Passos-Bueno MR, et al. Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance. Am J Med Genet 1994; 52:170-l73.
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