|
|
Trichomegaly with Mental Retardation, Dwarfism, and
Pigmentary Degeneration of the Retina
(Oliver McFarlane Syndrome) 242d32c 242d32c 242d32c 242d32c 242d32c
General: Autosomal recessive.
Ocular: Excessive growth of eyelashes and brow hair; pigmentary degeneration of retina; horizontal nystagmus; bilateral choroidoretinal pigmentary degeneration; ring heterochromia of the iris.
Clinical: Bulging of occipital and frontal bones; low birth weight; dwarfism; cryptorchidism; underdevelopment of penis; frontal alopecia.
Delleman JW, Van Walbeek K. The syndrome of trichomegaly, tapetoretinal degeneration and growth disturbances. Ophthalmologica 1975; 171:313-315.
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/.
Depresie, dureri abdominale, balonari, regurgitari, inapetenta, icter, slabire vizibila, greturi, varsaturi. Diagnostic Socul emotiv pertu [...] |
Are loc in urma unor traumatisme sau a unor procese degenerative, astfel ca retina se poate dezlipi de pe coroida, iar spatiul dintre aceste doua [...] |
Bolile supapelor inimii, bolile valvulare, sunt boli care in prezent pot fi tratate si cu care se poate supravietui daca urmezi o anumita conduit [...] |
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? |