Microcephaly, Microphthalmia, Cataracts, and Joint Contractures
General: Autosomal dominant; ocular features like Hagberg-Santavuori syndrome.
Ocular: Microphthalmia; cataracts; hypopigmented retinal degeneration.
Clinical: Microcephaly; shortening or wasting of muscle fibers, causing excess scar tissue over joints.
Bateman JB, et al. Ocular features of Hagberg-Santavuori syndrome. Am J Ophthalmol 1986; 102:262-271.
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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