Lacrimo-Auriculo-Dento-Digital Syndrome (Ladd-Levy-Hollister Syndrome)
General: Autosomal dominant; all features have been reported as isolated traits. 919g68j
Ocular: Aplasia or hypoplasia of puncta; obstruction of nasolacrimal ducts; bilateral lacrimal duct fistula; poor tear production; absent lacrimal puncta; chronic dacryocystitis; dry eyes; epiphora.
Clinical: Cup-shaped pinnas; mixed hearing deficit; small and peg-shaped lateral maxillary incisors; mild enamel dysplasia; fifth finger clinodactyly; duplication of the distal phalanx of the thumb; triphalangeal thumb; syndactyly; unilateral radial aplasia; poor saliva production; salivary gland hyposecretion; dental hypoplasia; dysplasia; cup-shaped ears with hearing loss; digital anomalies.
Bamfprtj JS, Kaurah P. Lacrimo-auriculo-dento-digital syndrome: evidence for lower limb involvement and severe congenital renal anomalies. Am J Med Genet 1992; 43:932-937.
Heinz GW, et al. Ocular manifestations of the lacrimo-auriculodento-digital syndrome. Am J Ophthalmol 1993; 115: 243-248.
Hoyme HE, Kreutz JM. The Levy Hollister syndrome. Proc Greenwood Genet Center 1985; 4:122-l23.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Vitreoretinochoroidopathy (VRCP; Autosomal Dominant Vitreoretinochoroidopathy; ADVIRC) 1 General: Autosomal dominant. Ocular: Chorioretinal [...] |
HIE Syndrome (Hyperimmunoglobulinemia E Syndrome) 5 General: Mononuclear cell [...] |
Congenital Vertical Retraction Syndrome&nb [...] |
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? |