{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T12:51:09Z","timestamp":1790254269874,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7215,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a sibship with one brother and two MZ twin sisters affected with osteoporosis\u2010pseudoglioma syndrome. An analysis of the present and literature data showed that vitreoretinal dysplasia or phthisis bulbi and X\u2010ray 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.<\/jats:p>","DOI":"10.1002\/ajmg.1320220104","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:59:31Z","timestamp":1118519971000},"page":"35-47","source":"Crossref","is-referenced-by-count":45,"title":["Osteoporosis\u2010pseudoglioma syndrome: Report of three affected sibs and an overview"],"prefix":"10.1002","volume":"22","author":[{"given":"Marina","family":"Frontali","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Stomeo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"61","article-title":"Syndrome of osteoporosis with pseudoglioma","volume":"25","author":"Bartsocas CS","year":"1982","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_3_1","first-page":"34","article-title":"Generalized osteoporosis with bilateral pseudoglioma\u2014An autosomal recessive disorder of connective tissue: Report of three families\u2010Review of literature (abstract)","volume":"24","author":"Bianchine YW","year":"1972","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","volume-title":"Skeletal Dysplasias","author":"Bianchine JW","year":"1969"},{"issue":"4","key":"e_1_2_1_4_2","first-page":"225","volume":"5","author":"National Foundation\u2014March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_5_1","first-page":"665","article-title":"Le pseudogliome bilateral avec ost\u00e9oporose g\u00e9n\u00e9raliz\u00e9e, une affection r\u00e9cessive autosomique","volume":"24","author":"Briard ML","year":"1976","journal-title":"J G\u00e9n\u00e9t Hum"},{"key":"e_1_2_1_6_1","first-page":"34","article-title":"Dysplasie hyalo\u00efdor\u00e9tinienne avec ost\u00e9oporose. 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