18q- Syndrome (18q Deletion Syndrome) 131e42b 131e42b 131e42b 131e42b
General: Chromosome 18q deletion syndrome.
Ocular: Macular 'fibrosis'; Optic disk abnormalities with tractional retinal detachment, retinal degeneration, and tilting of the optic disk.
Clinical: Microcephaly; short stature; hypotonia; hypothyroidism; diabetes mellitus; short neck; sensorineural hearing loss; sensorimotor axonal neuropathy; mild-to-moderate mental retardation; chronic arthritis; seizures.
Gordon MF, et al. Dystonia in a patient with deletion of 18q. Mov Disord 1995; 10:496-499.
Hansen US, Herline T. Chronic arthritis in a boy with 18q- syndrome. J Rheumatol 1994; 21:1958-l959.
Smith A, Caradus V, Henry JG. Translocation 46X6 t(17;18)(q25;q21) in a mentally retarded boy with progressive eye abnormalities. Clin Genet 1979; 16:156-l62.
Familial Hypogonadism Syndrome 4 Gener [...] |
Von Economo Syndrome (Encephalitis Lethargica; Sleeping Sickness; Iceland Disease) 1 General: Etiology not understood; may be [...] |
Yellow Fever [...] |
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? |
