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

Rosenthal-kloepfer syndrome 1


Rosenthal-Kloepfer Syndrome 1

General: Autosomal dominant; unilateral or bilateral; ons 545g62f et in early childhood; hyperplasia and furrowing of skin, especially of face and scalp, beginning about the fourth decade of life; etiology unknown; affects both sexes.

Ocular: Prominent lateral aspect of the supraorbital arch of the frontal bone; corneal leukomas (initially superficial stromal infiltrations that develop to thick and dense corneal opacities).

Clinical: Acromegaly; thickening of the bony skull; prominent lower jaw; skin changes (with verticis gyrata); abnormal ridges and creases of the palms.



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/.

Rosenthal JW, Kloepfer HW An acromegaloid, cutis verticis gyrata, corneal leukoma syndrome. A new medical entity. Arch Ophthalmol 1962; 68:722.




Alte materiale medicale despre: diseases




Gillum-Anderson Syndrome G [...]
Lenz Microphthalmia Syndrome Gene [...]
Patterned Dystrophy of Retinal Pigment Epithelium [...]


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