Oculocerebrocutaneous Syndrome (Delleman Syndrome)
General: Congenital; possibly autosomal recessive or a result of an environmenta 919e41j l problem; Dutch descent appears to be a predisposing factor; in most cases, involvement is unilateral, with left to right 2: 1.
Ocular: Orbital cyst; absence of orbital structures; microphthalmos; anophthalmia.
Clinical: Cerebral malformations; focal dermal hypoplasia; aplasia; epilepsy; developmental delay; cranial skin appendages; cutaneous punched-out lesions.
Delleman W, et al. Orbital cyst in addition to congenital cerebral and focal dermal malformations. Clin Genet 1984; 25:470.
Hoo JJ. Oculocerebrocutaneous (Delleman) syndrome: a pleiotropic disorder affecting ectodermal tissues with unilateral predominance. Am J Med Genet 1991; 40:290-293.
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/.
Wilson RD, et al. Oculocerebrocutaneous syndrome. Am J Ophthalmol 1985; 99:142-l48.
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