eSanatos - sanatatea ta e preocuparea noastra!
    Cauta in site
NutritieBoli
                 Home | Creeaza cont nou | Login membri


Diseases

NAVIGARE RAPIDA: » Pagina principala » GHID MEDICAL » termeni medicali » diseases

Microcephaly, microphthalmia, cataracts, and joint contractures


Microcephaly, Microphthalmia, Cataracts, and Joint Contractures

General: Autosomal dominant; ocular features like Hagberg-Santavuori syndrome.

Ocular: Microphthalmia; cataracts; hypopigmented retinal degeneration.

Clinical: Microcephaly; shortening or wasting of muscle fibers, causing excess scar tissue over joints.

Bateman JB, et al. Ocular features of Hagberg-Santavuori syndrome. Am J Ophthalmol 1986; 102:262-271.

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/.




Alte materiale medicale despre: diseases

Oculopalatoskeletal Syndrome [...]
Xeroderma Pigmentosum G [...]
Paragonimiasis (Distomiasis; Endemic Hemoptysis) General: Chroni [...]

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?
    Daca vrei raspunsuri scrie intrebarea mai jos:

    Unde se incadreaza problema medicala?

    Scrie codul din imaginea alaturat

    Vezi toate intrebarile