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Lacrimo-auriculo-dento-digital syndrome (ladd-levy-hollister syndrome)


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/.




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