Distichiasis (Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature) 376
General: Autosomal dominant.
Ocular: Double rows of eyelashes; congenital ectropion; absence of meibomian glands; replacement of dense collagenous tissue of the tarsal plates by loose areolar tissue.
Clinical: Congenital heart defects; ventricular septal defects; stress-induced asystole; visible varicosities; chronic venous disease of the legs; sinus bradycardia.
Goldstein S, et al. Distichiasis, congenital heart defects, and mixed peripheral vascular anomalies. Am J Med Genet 1985; 20:283-294.
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/.
1. Trilogia Fallot este constituita din stenoza pulmonara, defect septal inleratrial si hipertrofia ventriculului drept. Din cauza presiunilor mari [...] |
Este o cardiopatie congenitala frecvent intilnita, a carei incidenta este estimata intre 1015% din totalul anomaliilor congenitale cardio- [...] |
Imperforatia canalului lacrimal este o anomalie congenitala a carei manifestare este dacriocistita cronica la copil. Alte anomalii posibile sunt: [...] |
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? |