Ophthalmoplegia-plus.
The occurrence of chronic progressive external ophthalmoplegia, pigmentary retinal dystrophy and cardiac disturbances associated with arachnodactily, sternal deformity, high arched palate and severe myopia is reported. A pedigree analysis of this Jewish-Iranian family strongly suggests that the condition is inherited as autosomal recessive trait. The terminology of the condition and the spectrum of it variable phenotypic expression is described.
D000328:Adult; D004948:Esotropia / Q000150:complications / Q000235:genetics* / Q000601:surgery; D005260:Female; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000150:complications; D009216:Myopia / Q000150:complications; D009886:Ophthalmoplegia / Q000150:complications / Q000235:genetics* / Q000601:surgery; D010159:Palate / Q000002:abnormalities; D010375:Pedigree; D012162:Retinal Degeneration / Q000150:complications*; D013285:Strabismus / Q000235:genetics*