{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T20:27:58Z","timestamp":1790972878200,"version":"4.1.0"},"reference-count":6,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,4,9]],"date-time":"2012-04-09T00:00:00Z","timestamp":1333929600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on two sibs, a girl, and a boy, with tall stature, long, and triangular faces, prominent foreheads with high frontal hairlines, telecanthus, downward slanting of the palpebral fissures, ptosis of the eyelids, everted lower eyelids, large ears, long noses, full, and everted vermilions, highly arched and narrow palates, tooth crowding, thin and long uvulae, coloboma of the alae, hyperextensible joints, long digits, positive thumb signs, flat feet, slightly diminished muscle strength, myopia, astigmatia, inguinal hernia, and vesical diverticula. Total body X\u2010rays showed the presence of advanced bone age in both sibs and bilateral hallux valgus in the girl. Array\u2010CGH did not reveal any pathological CNV. Molecular analysis of <jats:italic>FBN1<\/jats:italic>, <jats:italic>FBN2<\/jats:italic>, <jats:italic>TGFBR1<\/jats:italic>, <jats:italic>TGFBR2<\/jats:italic>, and <jats:italic>CHST14<\/jats:italic> gene was normal, and SNP linkage analysis excluded more candidate genes. Differential diagnoses and the possibility that we might be reporting on a hitherto unreported syndrome are discussed. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35279","type":"journal-article","created":{"date-parts":[[2012,4,9]],"date-time":"2012-04-09T20:10:21Z","timestamp":1334002221000},"page":"1185-1189","source":"Crossref","is-referenced-by-count":13,"title":["Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: A new collagenopathy?"],"prefix":"10.1002","volume":"158A","author":[{"given":"Andr\u00e9","family":"M\u00e9garban\u00e9","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Hanna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliane","family":"Chouery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Jalkh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cybel","family":"Mehawej","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Boileau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,4,9]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bti275"},{"key":"e_1_2_5_4_1","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1002\/ajmg.a.33498","article-title":"New Ehlers\u2013Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility\u2010related manifestations","volume":"52","author":"Kosho T","year":"2010","journal-title":"Am J Med Genet"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"e_1_2_5_6_1","first-page":"220","article-title":"Un cas de d\u00e9formation cong\u00e9nitale des quatre membres plus prononc\u00e9e aux extr\u00e9mit\u00e9s caract\u00e9ris\u00e9e par l'allongement des os avec un certain degr\u00e9 d'amincissement","volume":"13","author":"Marfan AB","year":"1896","journal-title":"Bull Mem Soc Med Hop Paris"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199501000-00001"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35279","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35279","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T00:26:47Z","timestamp":1698712007000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35279"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,9]]},"references-count":6,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["10.1002\/ajmg.a.35279"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35279","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,4,9]]}}}