Sclerocornea 1

General: Autosomal dominant; feature 333h76d of cornea a.

Ocular: Malformation of cornea; indistinct limits of cornea and sclera.

Clinical: Found in a patient with monosomy 21; may be found in association with hypertelorism, syndactyly, ambiguous genitalia, and epidermolysis bullosa dystrophica.

Bloch N. Les Differents Types de Sclerocornea, Lewis Modes d'Heredite et les Malformations Congenitales Concornitantes. J Genet Hum 1965; 14:133-l72.

Doane JF, et al. Bilateral penetrating keratoplasty for sclerocornea in an infant with monosomy 21. Case report and review of the literature. Cornea 1994; 13:454-458.

Martinez-Frias ML, et al. Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia. Am J Med Genet 1994; 49:195-l97.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th 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/.

Sharkey JA, et al. Cornea a and sclerocornea in association with recessive epidermolysis bullosa dystrophica. Case report. Cornea 1992; 11:83-85.