{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T07:12:13Z","timestamp":1787987533513,"version":"build-2784847793"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4540,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two patients with osteoporosis pseudoglioma syndrome are described. Both are single children, born to nonconsanguineous, healthy parents.<\/jats:p><jats:p>The first patient, a 17\u2010year\u2010old girl, had serious visual impairment since birth. She is severely dwarfed and has major skeletal deformities resulting in inability to walk since age 2 years.<\/jats:p><jats:p>The second patient is an 18\u2010year\u2010old girl with unilateral neonatal blindness, short stature and deformities, mainly of pelvis and lower limbs. She has been able to walk with support up to now. The clinical and radiological findings in these 2 patients reflect the clinical variability of the condition.<\/jats:p><jats:p>Results of collagen studies in both patients are normal and differentiate this condition clearly from severe osteogenesis imperfecta, which it resembles. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320450110","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:21:25Z","timestamp":1118506885000},"page":"30-37","source":"Crossref","is-referenced-by-count":31,"title":["Osteoporosis\u2010pseudoglioma syndrome"],"prefix":"10.1002","volume":"45","author":[{"given":"Anne","family":"de Paepe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jules G.","family":"Leroy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lieve","family":"Nuytinck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7oise","family":"Meire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Capoen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"896","article-title":"Spondyloepiphyseal dysplasia congenita: Genetic linkage to type II collagen (COL2A1)","volume":"46","author":"Anderson IJ","year":"1990","journal-title":"Am J Hum Genet"},{"issue":"1","key":"e_1_2_1_3_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_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb01220.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)89655-7"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(87)90027-9"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220104"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1038\/227680a0","article-title":"Cleavage of structural proteins during the assembly of the head of bacteriophage T4","volume":"226","author":"Laemmli UK","year":"1970","journal-title":"Nature"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1975.tb02238.x"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01581.x"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.6.375"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.8.543"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01907.x"},{"key":"e_1_2_1_14_1","first-page":"29","article-title":"Letters to the editors","author":"Superti\u2010Furga A","year":"1986","journal-title":"Clin Genet"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.1.32"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320450110","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320450110","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T13:51:33Z","timestamp":1698241893000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320450110"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,1]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1993,1]]}},"alternative-id":["10.1002\/ajmg.1320450110"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320450110","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,1]]}}}