Oculopalatocerebral Dwarfism (OPC Dwarfism)
General: Autosomal recessive; persistent hyperplastic prim 414i87e ary vitreous.
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/.
Diverticulosis of Bowel, Hernia, Retinal Detachment &nb [...] |
Arcus Cornea (Arcus Senilis) [...] |
Hypertension [...] |
Copyright © 2010 - 2024
: eSanatos.com - Reproducerea, chiar si partiala, a materialelor de pe acest site este interzisa!
Informatiile medicale au scop informativ si educational. Ele nu pot inlocui consultul medicului si nici diagnosticul stabilit in urma investigatiilor si analizelor medicale la un medic specialist.
Termeni si conditii - Confidentialitatea datelor - Contact
Despre diseases |
| Alte sectiuni |
|
Ai o problema medicala? |
