{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T12:45:26Z","timestamp":1770295526272,"version":"3.49.0"},"reference-count":10,"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":4662,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a syndrome of progressive joint stiffness, glaucoma, and lens dislocation observed in three generations and compare it with two previous records of short stature, lens ectopia, and articular limitation. This family confirms the existence of a dominant Weill\u2010Marchesani\u2010like syndrome. We suggest that it could be related to the Moore\u2010Federman syndrome. We coin the acronym GEMSS syndrome (Glaucoma, Ectopia, Microspher\u2010ophakia, Stiff joints, Short stature) to distinguish this dominant Weill\u2010Marchesani\u2010like syndrome from the classic, recessively inherited syndrome. \u00a9 1992 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320440112","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:52:31Z","timestamp":1118548351000},"page":"48-51","source":"Crossref","is-referenced-by-count":34,"title":["Glaucoma\u2010lens ectopia\u2010microspherophakia\u2010stiffness\u2010shortness (GEMSS) syndrome: A dominant disease with manifestations of Weill\u2010Marchesani syndromes"],"prefix":"10.1002","volume":"44","author":[{"given":"Alain","family":"Verloes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Paul","family":"Hermia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert","family":"Galand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucien","family":"Koulischer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pol","family":"Dodinval","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"139","DOI":"10.3928\/0191-3913-19740801-12","article-title":"Weill\u2010Marchesani syndrome in two generations: Genetic heterogeneity or pseudodominance?","volume":"11","author":"Gorlin RJ","year":"1974","journal-title":"J Pediatr Ophthal Strab"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(74)90685-0"},{"key":"e_1_2_1_4_1","first-page":"398","article-title":"Possible genetic carriers in the spherophakia\u2010brachymorphy syndrome","volume":"7","author":"Kloepfer HW","year":"1955","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(66)91904-0"},{"key":"e_1_2_1_6_1","volume-title":"Heritable Disorders of Connective Tissue","author":"McKusick VA","year":"1974"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.1965.03860160024004"},{"key":"e_1_2_1_8_1","first-page":"2011","article-title":"Zur Heredit\u00e4t des Marfan\u2010 und des Weill\u2010Marchesani Syndroms","volume":"28","author":"Pietrushka G","year":"1973","journal-title":"Dtsch Ges Wesen"},{"key":"e_1_2_1_9_1","first-page":"369","article-title":"Ectopie cong\u00e9nitale du cristallin avec sph\u00e9rophakie et brachymorphie accompagn\u00e9e de par\u00e9sie du regard","volume":"62","author":"Rousseau Hermann","year":"1949","journal-title":"Bull Mem Soc Fr Ophtalmol"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.5.320"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01914.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320440112","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320440112","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T15:51:35Z","timestamp":1698162695000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320440112"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,9]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1992,9]]}},"alternative-id":["10.1002\/ajmg.1320440112"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320440112","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,9]]}}}