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

M. Frontali, C. Stomeo, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)35-47
Number of pages13
JournalAmerican Journal of Medical Genetics
Issue number1
Publication statusPublished - 1985

ASJC Scopus subject areas

  • Genetics(clinical)


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