Godel V, Nemet P, Reider-Groswasser I, Messer G, Lazar M
Doc Ophthalmol. 1981 Nov;51(4):373-82. doi: 10.1007/BF00143339.
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.
报告了伴有蜘蛛指、胸骨畸形、高腭弓和重度近视的慢性进行性眼外肌麻痹、色素性视网膜营养不良及心脏功能障碍的病例。对这个犹太-伊朗家族的系谱分析强烈提示该病是以常染色体隐性性状遗传的。文中描述了该病的术语及其不同表型表达的范围。