Oculopalatocerebral Dwarfism (OPC Dwarfism)
General: Autosomal recessive; persistent hyperplastic primary vitreous. 434i87e
Ocular: Persistent hypertrophic primary vitreous; microphthalmos; leukocoria; retrolental fibrovascular membrane.
Clinical: Microcephaly; mental retardation; spasticity; cleft palate; short stature.
Frydman M, et al. Oculo-palato-cerebral dwarfism: a new syndrome. Clin Genet 1985; 27:414-419.
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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