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

Matsoukas syndrome (oculo-cerebro-articulo-skeletal syndrome) 7


Matsoukas Syndrome (Oculo-Cerebro-Articulo-Skeletal Syndrome) 7

General: Autosomal dominant; 323g61d some of the features are found in Larsen syndrome, Schwartz syndrome, Hallermann-Streiff syndrome, Mietens syndrome, and Stickler syndrome; both sexes affected; onset at birth.

Ocular: Microphthalmia; myopia; increased pupillary distance; cataract; corneal sclerosis with vascular pericorneal net.



Clinical: Small stature; multiple joint dislocations; mental retardation; high palate; small mouth.

Matsoukas J, et al. A newly recognized dominantly inherited syndrome: short stature, ocular and articular anomalies, mental retardation. Helv Paediatr Acta 1973; 28:383.

Schwartz O, Jumpel RS. Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthalmol 1962; 68:52.




Alte materiale medicale despre: diseases




Contact Dermatitis (Dermatitis Venenata)&n [...]
Gillum-Anderson Syndrome G [...]
Goldenhar Syndrome (Oculo-Auriculo-Vertebral Dysplasia; Goldenhar-Gorlin Syndrome) General: Most cases have been sporadic, but cas [...]


});

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