Osteoporosis‐pseudoglioma syndrome: Report of three affected sibs and an overview

作者：Marina Frontali, Chiara Stomeo, Bruno Dallapiccola, John M. Opitz, James F. Reynolds · 发表于：American Journal of Medical Genetics · 年份：1985 · DOI：10.1002/ajmg.1320220104 · 被引用次数：62 · 研究领域：Glaucoma and retinal disorders、Retinal Diseases and Treatments、Cerebral Venous Sinus Thrombosis

We report on a sibship with one brother and two MZ twin sisters affected with osteoporosis-pseudoglioma syndrome. An analysis of the present and literature data showed that vitreoretinal dysplasia or phthisis bulbi and X-ray evidence of osteoporosis must be considered minimal diagnostic criteria. Mental retardation, ligamentous laxity, and other reported anomalies are highly variable manifestations in the syndrome. Segregation analysis confirmed autosomal recessive transmission. The geographic origin of reported families suggests a higher gene frequency in Mediterranean countries.