Dominant inheritance of multiple epiphyseal dysplasia, myopia and deafness.
An Afrikaner kindred in South Africa had a dominantly inherited skeletal dysplasia-blindness-deafness syndrome. The affected individuals had reduced stature and a round, flattened facies. The bone changes resembled multiple epiphyseal dysplasia with additional minor abnormalities in the phalanges, femoral heads and spine. Progressive myopia, retinal thinning and crenated cataracts led to visual disturbance, while conductive deafness represented the third component of the triad. The syndromic significance of associated asteroid hyalosis is uncertain.
D000015:Abnormalities, Multiple / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D002386:Cataract / Q000235:genetics; D002648:Child; D005260:Female; D005799:Genes, Dominant; D034381:Hearing Loss / Q000235:genetics*; D006314:Hearing Loss, Conductive / Q000235:genetics*; D006801:Humans; D008297:Male; D009216:Myopia / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D012160:Retina / Q000002:abnormalities; D013577:Syndrome