Kearns-Sayre syndrome.
A family with Kearns Sayre syndrome, characterized by a distinctive type of progressive external ophthalmoplegia, retinal pigmentary dystrophy and cardiac disturbances is described. Additional malformations as arachnodactily, sternal deformity, high arched palate and severe myopia are reported. The spectrum of the variable phenotypic expression is delineated. The occurrence of the disease in these patients, off-spring of a consanguineous mating, reinforce the assumption that hereditary transmission may play a role in the pathogenesis of at least some cases. The pedigree analysis suggest autosomal recessive inheritance.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics*; D008297:Male; D009886:Ophthalmoplegia / Q000235:genetics*; D010375:Pedigree