Craniofacial, Deafness, Hand Syndrome &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; &n 232e45c bsp; 312
General: Autosomal dominant.
Ocular: Hypertelorism.
Clinical: Flat facial profile; hypoplastic nose with slitlike nares; hearing loss; ulnar deviation of hands.
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/.
Sommer A, et al. Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. Am J Med Genet 1983; 15:71-77.
Weil Disease (Leptospirosis) [...] |
Diffuse Keratoses Syndrome&nbs [...] |
Atopic Dermatitis (Atopic Eczema; Besnier Prurigo) General: Highly specific disease resulting from a heredity determined lowered cutaneous thr [...] |
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? |
