Mulvihill-Smith Syndrome 929e49j 929e49j 929e49j 929e49j 929e49j
General: Progeroid disorder.
Ocular: Keratoconus; conjunctivitis.
Clinical: Patients have short stature, microcephaly, unusual facies, numerous pigmented nevi, hypodontia, sensorineural hearing loss, immunodeficiency (low IgG), and a high-pitched voice.
Bartsch O, et al. Mulvihill-Smith syndrome: case report and review. J Med Genet 1994; 31:707-711.
Okashi N, et al. Premature aging and immunodeficiency: Mulvihill-Smith syndrome? Am J Med Genet 1997; 45: 597-600.
Rau S, Duncker GI. Keratoconus in Mulvihill-Smith syndrome. Klin Monatsbl Augenheilkd 1994; 205:44-46.
Saldino-Mainzer Syndrome Ge [...] |
Superior Vena Cava Syndrome (Vena Cava Superior Syndrome) 1 General: Compression or obstru [...] |
Corneo-Dermato-Osseous Syndrome (CDO Syndrome; Corneal Dystrophy, Epithelial with Skin and Skeletal Changes) & [...] |
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? |
