Flynn-Aird Syndrome
Flynn-Aird Syndrome
General: May be basic hereditary enzyme deficiency, probably autosomal dominant; no sex predilection apparent.
Ocular: Severe myopia; bilateral cataracts; retinitis pigmentosa; total blindness; onset of visual difficulties in first or second decade of life.
Clinical: Hearing loss; joint stiffness; muscular wasting; kyphoscoliosis.
Flynn P, Aird RB. A neuroectodermal syndrome of dominant inheritance. J Neurol Sci 1965; 2:161-182.
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: http://www.ncbi.nlm.nih.gov/omim/.
Regenbogen LS, Coscas GJ. Oculo-auditory syndromes. New York: Masson, 1985:99-103.
General: May be basic hereditary enzyme deficiency, probably autosomal dominant; no sex predilection apparent.
Ocular: Severe myopia; bilateral cataracts; retinitis pigmentosa; total blindness; onset of visual difficulties in first or second decade of life.
Clinical: Hearing loss; joint stiffness; muscular wasting; kyphoscoliosis.
Flynn P, Aird RB. A neuroectodermal syndrome of dominant inheritance. J Neurol Sci 1965; 2:161-182.
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: http://www.ncbi.nlm.nih.gov/omim/.
Regenbogen LS, Coscas GJ. Oculo-auditory syndromes. New York: Masson, 1985:99-103.
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