Craniotelencephalic Dysplasia 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 828d31i ; 319
General: Autosomal recessive.
Ocular: Optic nerve hypoplasia.
Clinical: Frontal bone protrusion; encephalocele; craniosynostosis; developmental retardation; agenesis of the corpus callosum; lissencephaly; arhinencephaly.
Hughes HE, et al. Craniotelencephalic dysplasia in sisters: further delineation of a possible syndrome. Am J Med Genet 1983; 14:557-565.
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/.
Blau Syndrome [...] |
Neurilemoma (Schwannoma; Neurinoma) General: Slow [...] |
General Fibrosis Syndrome (Congenital Enophthalmos with Ocular Muscle Fibrosis and Ptosis; Congenital Fibrosis of the Inferior Rectus with Ptosis; [...] |
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? |
