Koby Syndrome (Floriform Cataract) 6
General: Autosomal dominant; both sexe 121e48b s affected.
Ocular: Multiple opacities of different shapes (annular, floriform, and polychromatic); found especially around embryonic nucleus.
Clinical: None.
Doggart JR. Congenital cataract. Trans Ophthalmol Soc UK 1957; 77:31-37.
Koby FE. Cataracte Familiale d'un Type Particulier, Se Transmettant Apparentent Suivant le Mode Dominant. Arch Ophthalmol 1923; 40:492-503.
Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: m Lippincott, 1981.
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/.
Cystinuria &n [...] |
ML III (Pseudo-Hurler Polydystrophy; Mucolipidosis III) General: Autosomal [...] |
Mirror Image Syndrome (Autoscopic Syndrome; Lukianowicz Phenomenon) General: Patient's delusion that he o [...] |
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? |