Multiple Lentigines Syndrome (LEOPARD Syndrome)
General: Familial occurrence; classic features include lentigines (sma 717c28h ll focal hyperpigmentations of skin), electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and deafness (LEOPARD).
Ocular: Hypertelorism; exophthalmos; epicanthal folds; strabismus; nystagmus; keratoconus.
Clinical: Lowset ears; receding chin; deafness; lentigines; pulmonary stenosis; genital abnormalities; growth retardation; skeletal malformations (bony fusion involving cervical vertebrae, ossicles, carpal and tarsal bones, scoliosis); hyposmia; heart murmur; mental retardation; hypospadias; congenital heart defect; thoracic deformities; respiratory insufficiency.
Gorlin RJ, et al. Multiple lentigines syndrome. Am J Dis Child 1969; 117:652.
Howard RO. Premature cataracts associated with generalized lentigo. Ophthalmology 1980; 87:234-239.
Peter JR, Kemp JS. Leopard syndrome: death because of chronic respiratory insufficiency. Am J Med Genet 1990; 37:340-341.
Swanson SL, et al. Multiple lentigines syndrome: new findings of hypogonadotrophism, hyposmia, and unilateral renal agenesis. J Pediatr 1971; 78:1037.
Ophthalmoplegic Retinal Degeneration Syndrome (Barnard-Scholz Syndrome) General: Onset at all ages (see Kearns [...] |
Bang Disease (Brucellosis; Malta Fever; Mediterranean Fever; Pig Breeder Disease; Gibraltar Fever; Undulant Fever) General: Transmitted to m [...] |
Blau Syndrome   [...] |
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? |