{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T09:52:19Z","timestamp":1787910739770,"version":"build-2784847793"},"reference-count":24,"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>We report on a family with 4 affected males in 3 generations with a previously unreported X\u2010linked mental retardation\/multiple congenital anomaly (XLMR\/MCA) syndrome. The propositus was a 7\u2010year\u2010old Latin American moderately retarded male with; prenatal and postnatal overgrowth; short, broad upturned nose; large mouth; midline groove of tongue, lower alveolar ridge and lower lip; submucous cleft palate; supernumerary nipples; 13 ribs; Meckel's diverticulum; intestinal malrotation; coccygeal skin tag and bony appendage; hypoplastic index fingernails; postaxial polydactyly of the right hand, bilateral syndactyly of 2nd and 3rd fingers; and tibial clinodactyly of 2nd toes. His sister's son, a premature infant who died at 4 months, had nearly identical manifestations. The propositus and his nephew had normal chromosomes. A brother and son of the sister of the mother of the propositus were similarly affected and both died in the newborn period. The mother of the propositus had a large mouth, coccygeal skin tag and bony appendage, and hypoplastic index fingernails.<\/jats:p><jats:p>This distinct mental retardation\/multiple congenital anomaly syndrome is added to the growing list of presently known X\u2010linked MCA\/MR syndromes.<\/jats:p>","DOI":"10.1002\/ajmg.1320170128","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:00:44Z","timestamp":1118516444000},"page":"345-358","source":"Crossref","is-referenced-by-count":121,"title":["A new X\u2010linked mental retardation\u2010overgrowth syndrome"],"prefix":"10.1002","volume":"17","author":[{"given":"Mahin","family":"Golabi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Rosen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","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":"188","volume-title":"The First Conference on the Clinical Delineations of Birth Defects. 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