{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:19:18Z","timestamp":1760782758747},"reference-count":2,"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":7824,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1984,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Golabi and Rosen (1984) have reported on a new X\u2010linked mental retardation\/multiple congenital anomalies (XLMR\/MCA) syndrome of pre\u2010 and postnatal overgrowth, characteristic \u201ccoarse\u201d facial appearance with macrostomia, midline groove of tongue, lower alveolar ridge and lip, submucous cleft of palate, supernumerary nipples, intestinal anomalies, supernumerary pair of ribs, anomalies of sacrum and tailbone, hypoplastic index fingernails, postaxial polydactyly and other digital anomalies. This was an incompletely recessive trait with some manifestations evident in an obligatory carrier.<\/jats:p><jats:p>Here we report on a second family (studied at the University of Wisconsin for over 9 years) in which 3 males born to half\u2010sisters and their mother were affected with the Golabi\u2010Rosen syndrome (GRS) Overgrowth was not a prominent manifestation in these affected males. Presence of cystic kidneys, peculiar skin changes and hepatomegaly make it likely that the Golabi\u2010Rosen syndrome is an X\u2010linked MCA\/dysplasia\/MR syndrome. Its metabolic basis remains unknown. It seems to be an incompletely recessive trait.<\/jats:p>","DOI":"10.1002\/ajmg.1320170129","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:00:44Z","timestamp":1118516444000},"page":"359-366","source":"Crossref","is-referenced-by-count":36,"title":["The Golabi\u2010Rosen syndrome \u2010 report of a second family"],"prefix":"10.1002","volume":"17","author":[{"given":"John M.","family":"Opitz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","unstructured":"GolabiM RosenL(1984): A new X\u2010linked mental retardation \u2010overgrowth syndrome.Am J Med Genet this issue.","DOI":"10.1002\/ajmg.1320170128"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","unstructured":"KelleyRI(1983): Review: The cerebrohepatorenal syndrome of Zellweger morphologic and metabolic aspects.Am J Med Genet in Press.","DOI":"10.1002\/ajmg.1320160409"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320170129","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320170129","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T19:39:45Z","timestamp":1697744385000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320170129"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,1]]},"references-count":2,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1984,1]]}},"alternative-id":["10.1002\/ajmg.1320170129"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320170129","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,1]]}}}