Kaufman Oculocerebrofacial Syndrome 6
General: Autosomal recessive; significant positive and negative features.
Ocular: Hypertelorism; epicanthal folds; ptosis; mongoloid obliquity; microcornea; pale optic disk; laterally broad eyebrows sparse.
Clinical: Flat philtrum; congenital hypotonia; micrognathia; respiratory distress; high narrow palate; lordosis; constipation; flat feet.
Kaufman R, et al. An oculocerebrofacial syndrome. Birth Defects 1971:7:135-l38.
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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