{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T04:35:19Z","timestamp":1696998919199},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,8,7]],"date-time":"2002-08-07T00:00:00Z","timestamp":1028678400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,11,22]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 10\u2010year\u2010old patient with a provisionally new syndrome of MR\/MCA with an evolving phenotype. Major findings at birth included short umbilical cord; striking hypotonia and cutis laxa with increased OFC; facial abnormalities with epicanthal folds, telecanthus, mild hypertelorism, wide flat nasal bridge, hypoplastic nose with upturned nostrils, and low\u2010set dysplastic ears; asymmetric deformed chest with prominent sternum and winged scapulae; wider thumbs and halluces; left cryptorchidism and unusual perianal creases. Chromosomal and metabolic studies were normal. With aging, the phenotype has changed significantly: cutis laxa disappeared, the perianal creases and hypotonia are much milder, the initial apparent macrocephaly turned out to be true microcephaly, broad thumbs are less evident, but skeletal anomalies are more striking. Unsuccessful extensive diagnostic searches since birth and presentation in meetings suggest the presence of a private syndrome. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10747","type":"journal-article","created":{"date-parts":[[2002,10,30]],"date-time":"2002-10-30T14:19:03Z","timestamp":1035987543000},"page":"213-217","source":"Crossref","is-referenced-by-count":2,"title":["Provisional new syndrome of MR\/MCA with evolving phenotype"],"prefix":"10.1002","volume":"113","author":[{"given":"Yves","family":"Lacassie","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c9va","family":"Morava","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivan","family":"LaMotta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,8,7]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980526)77:4<332::AID-AJMG16>3.0.CO;2-J"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199307000-00003"},{"key":"e_1_2_4_4_1","first-page":"249","article-title":"Rubinstein\u2010Taybi syndrome caused by submicroscopic deletion within 16p13.3","volume":"52","author":"Breuning MH","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.5.332"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260115"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991008)86:4<395::AID-AJMG16>3.0.CO;2-L"},{"key":"e_1_2_4_8_1","first-page":"1","article-title":"The carbohydrate\u2010deficient glycoprotein syndrome. 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