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

Sorsby i syndrome (hereditary macular coloboma syndrome) 1


Sorsby I Syndrome (Hereditary Macular Coloboma Syndrome) 1

General: Autosomal dominant; related to Laurence-M 727g64h oon-Bardet-Biedl and Biemond syndromes; apical dystrophy of the extremities and bilateral macular colobomata; both sexes affected; onset from birth (see Laurence-Moon-Bardet-Biedl Syndrome; Biemond Syndrome).

Ocular: Hypermetropia; nystagmus; bilateral macular colobomata with various degrees of pigmentation but sharply lined borders.

Clinical: Distal dystrophy of the hands and feet; rudimentary or absent index fingernails; absence of big toe; cleft palate.

Francois J. Heredity in Ophthalmology. St. Louis: CV Mosby, 1961:694.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

Sorsby A. Congenital coloboma of the macula: together with an account of the familial occurrence of bilateral macular coloboma in association with apical dystrophy of hands and feet. Br J Ophthalmol 1935; 19:65.




Alte materiale medicale despre: diseases

Bartsocas-Papas Syndrome    [...]
Neurilemoma (Schwannoma; Neurinoma) General: Slow [...]
Haemophilus Influenzae [...]

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