Bieber Syndrome 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 545i88f 143
General: X-linked recessive inheritance.
Ocular: Microphthalmos; corneal pannus; cataracts; uveal hypoplasia; retinal dysplasia; optic nerve hypoplasia; congenital blepharoptosis.
Clinical: Microencephaly; mental retardation; agenesis of corpus callosum; hypospadias; cryptorchidism.
Bieber FR, et al. Prenatal detection of a new form of X-linked microencephaly. Am J Hum Genet 1983; 35:81A.
Duker JS, et al. Ocular findings in a new heritable syndrome of brain, eye, and urogenital abnormalities. Am J Ophthalmol 1985; 99:51-55.
Howard RO. Classification of chromosomal eye syndrome. Int Ophthalmol Clin 1981; 4:77.
Sipple Syndrome (Multiple Endocrine Neoplasia 2 or 2A; Multiple Endocrine Adenomatosis 2 or 2A; Familial Chromaffinomatosis; Multiple Neuroma; Pheo [...] |
Walker-Warburg Syndrome (Cerebroocular Dysplasia-Muscular Dystrophy; Warburg Syndrome; COD-MD Syndrome; Fukuyama Congenital Muscular Dystrophy; Har [...] |
Progressive External Ophthalmoplegia and Scoliosis General: Rare; is [...] |
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? |
