Larsen Syndrome
General: Etiology unknown; autosomal recessive; possibly dominant in some cases.
Ocular: Hypertelorism; bilateral chronic keratitis; corneal neovascularization; lower lid entropion.
Clinical: Frontal bossing; depressed nasal bridge; flat face; flat and broad thumbs; skeletal dysplasia with multiple joint dislocations; unusual faces; long, cylindrical fingers; spatulate thumbs; dental abnormalities; cardiac defects; hydrocephalus; laryngotracheomalacia; dislocation of the cervical spine; tracheomalacias; heart disease; severe respiratory infection; clubfeet; multiple joint deformities; hydrocephalus; tracheal stenosis.
Bixler D, et al. Hypertelorism, microtia, and facial clefting. Am J Dis Child 1969; 118:495-500.
Klenn PJ, Iozzo RV. Larsen's syndrome with novel congenital anomalies. Hum Pathol 1991; 22:1055-l057.
Larsen LJ, et al. Multiple congenital dislocations associated with characteristic facial abnormality. J Pediatr 1950; 37:574-581.
Laville JM, et al. Larsen's syndrome: review of the literature and analysis of thirty-eight cases. J Pediatr Orthop 1994; 14:63-73.
Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.
Spinocerebellar Degeneration and Corneal Dystrophy (Corneal Cerebellar Syndrome; Corneal Dystrophy with Spinocerebellar Degeneration) [...] |
Fusobacterium [...] |
Falciform Detachment with Microphthalmia and Microcephaly General: Rare; both sexes [...] |
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? |
