Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
General: Autosomal dominant; onset early adulthood of severe osteoarthri 717h76h tis of hips; deficiency of distal tibial ossification seen in children results in sloping end of tibia in adulthood.
Ocular: Progressive myopia; retinal thinning; cataracts.
Clinical: Osteoarthritis of hips; short stature; brachydactyly, hyperextensibility of fingers; widening of joint spaces; conductive deafness.
Beighton P, et al. Dominant inheritance of multiple epiphyseal dysplasia, myopia, and deafness. Clin Genet 1978; 14:173-l77.
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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