Oculo-Osteocutaneous Syndrome 131g64b 131g64b 131g64b 131g64b 131g64b
General: Autosomal recessive.
Ocular: Strabismus; myopia; distichiasis; nystagmus; lenticular opacities.
Clinical: Short stature; brachydactyly; hypoplastic maxilla; scanty hair; hypopigmentation; mental retardation.
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/.
Tumaala P, Haapanen E. Three siblings with similar anomalies in the eyes, bones, and skin. Acta Ophthalmol 1968; 46:365-371.
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