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


Diseases

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

Palpebral coloboma-lipoma syndrome (nasopalpebral lipoma-coloboma)                                   

Trimite pe WhatsApp Versiune pentru tiparire

Palpebral Coloboma-Lipoma Syndrome (Nasopalpebral Lipoma-Coloboma) 

General: Autosomal dominant; described in a Venezuelan family.

Ocular: Coloboma of upper and lower lids 727f58h at junction between their middle and inner thirds; fat deposits of both upper lids; malposition of lacrimal puncta; hypertelorism; telecanthus.

Clinical: Broad nasal bridge; fatty accumulations on nasal bridge and nasolabial area; maxillary hypoplasia.

Akarsu AN, Sayli BS. Nasopalpebral lipoma-coloboma syndrome. Clin Genet 1991; 30:342-344.

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/.

Penchaszadeh VB, et al. The nasopalpebral lipoma-coloboma syndrome: a new autosomal dominant dysplasia-malformation syndrome with congenital nasopalpebral lipomas, eyelid colobomas, telecanthus, and maxillary hypoplasia. Am J Med Genet 1982; 11:397-410.




Alte materiale medicale despre: diseases





CRST Syndrome (Thibierge-Weissenbach Syndrome; Calcinosis, Raynaud Phenomenon, Sclerodactyly, and Telangiectasia)    &n [...]
Louis-Bar Syndrome (Cephalo-Oculocutaneous Telangiectasis; Ataxia-Telangiectasia Syndrome)  General: Autosomal recessive; thymic abnormality [...]
Vaccinia                                                                                                                                               [...]


Copyright © 2010 - 2020 : 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:

    Intrebarea in cateva cuvinte
    Intrebarea cu toate detaliile
    Unde se incadreaza problema medicala?
    Scrie codul din imaginea alaturata
    Scrie codul din imaginea alaturat



    Vezi toate intrebarile