{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T18:26:48Z","timestamp":1770748008476,"version":"3.49.0"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,4]],"date-time":"2005-06-04T00:00:00Z","timestamp":1117843200000},"content-version":"vor","delay-in-days":6639,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Idiopathic osteolysis denotes a group of ran; bone disorders differentiated on the basis of clinical, radiological, and geneti; criteria. Idiopathic multiccniric ostco\u2010lysis (IMO) is one form of osteoiysis that can occur as an autosomal dominant condition.<\/jats:p><jats:p>In childhood, affected individuals have arthritic\u2010like episodes, followed by progressive deformities, radiological osteolytic changes, and variable degrees of disability. A peculiar face and variable renal involvement have been described as associated manifestations.<\/jats:p><jats:p>We report on a family with three members affected by IMO in two generations showing variable bone changes and persistent proteinuria. A sporadic case with severe renal damage is also described in which a de novo dominant mutation is suggested.<\/jats:p><jats:p>All patients had peculiar facial manifestations including triangular shape, protruding eyes, and micrognathia. These manifestations may be part of the syndrome of IMO.<\/jats:p>","DOI":"10.1002\/ajmg.1320260415","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:52:04Z","timestamp":1118544724000},"page":"877-886","source":"Crossref","is-referenced-by-count":28,"title":["Idiopathic multicentric osteolysis with facial anomalies and nephropathy"],"prefix":"10.1002","volume":"26","author":[{"given":"Alessandra","family":"Carnevale","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonia","family":"Can\u00fan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luciano","family":"Mendoza","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria","family":"del Castillo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000181769"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00347095"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)81076-2"},{"key":"e_1_2_1_5_1","first-page":"423","article-title":"Osteolysis \u00e9ssentielle \u00e0 debut carpien et tarsien","volume":"30","author":"Fryns JP","year":"1982","journal-title":"J G\u00e9n\u00e9t Hum"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80177-X"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1148\/108.1.99"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1302\/0301-620X.47B2.339","article-title":"Osteoarticular changes in a case of essential osteolysis. 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