Fetal Hydantoin Syndrome 4
General: Syndrome due to an epoxide hydrolase 1, microsomal, arene oxide detoxification defect.
Ocular: Nystagmus.
Clinical: In vitro testing for the defect correlates most highly with congenital heart disease, cleft lip/palate, microcephaly, and major genitourinary, eye, and limb defects; hypersensitivity to phenytoin has occurred.
Buehler BA, et al. Prenatal prediction of risk of the fetal hydantoin syndrome. N Engl J Med 1990; 322:1567-l571.
Gennis MA, et al. Familial occurrence of hypersensitivity to phenytoin. Am J Med 1991; 91:631-634.
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/.
Pelizaeus-Merzbacher Disease (Aplasia Axialis Extracorticalis Congenita; Sudanophilic Leukodystrophy) [...] |
Myopia, Infantile Severe [...] |
Mbius I Syndrome (Hemicrania, Hemiplegic; Hemiplegic-Ophthalmoplegic Migraine; Hemiplegic Familial Migraine) [...] |
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? |
