Craniosynostosis-Mental Retardation-Clefting Syndrome& 111d31b nbsp; & 111d31b nbsp; & 111d31b nbsp; & 111d31b nbsp; & 111d31b nbsp; & 111d31b nbsp; & 111d31b nbsp; & 111d31b nbsp; & 111d31b nbsp; & 111d31b nbsp; & 111d31b nbsp; & 111d31b nbsp; & 111d31b nbsp; & 111d31b nbsp; & 111d31b nbsp; & 111d31b nbsp; 318
General: Autosomal recessive.
Ocular: Choroidal coloboma.
Clinical: Craniosynostosis; mental retardation; seizures; dysplastic kidneys; bat ears; cleft lip and palate; beaked nose; small posterior fontanelle.
Baraitser M, et al. A new craniosynostosis-mental retardation syndrome. Clin Genet 1982; 22:12-l5.
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/.
Plummer-Vinson Syndrome (Sideropenic Dysphagia Syndrome; Paterson-Brown-Kelly Syndrome; Waldenstrom-Kjellberg Syndrome) [...] |
Duane Syndrome (Retraction Syndrome; Stilling Syndrome; Turk-Stilling Syndrome) [...] |
Dollinger-Bielschowsky Syndrome (Jansky-Bielschowsky Syndrome; Infantile Amaurotic Familial Idiocy [Late]; Infantile Ganglioside Lipidosis [...] |
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? |
