{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T13:42:55Z","timestamp":1788183775249,"version":"build-2803163510"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,4,4]],"date-time":"2005-04-04T00:00:00Z","timestamp":1112572800000},"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":[[2005,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sternal fusion defects are malformations that often present as an isolated finding. An association with multiple malformations has been reported, in particular with midline raph\u00e9 and craniofacial hemangiomas and as part of the pentalogy of Cantrell. Most syndromic cases were sporadic with a few families reported with recurrence in sibs. We describe a mother and two daughters with midline raph\u00e9 and sternal defects. Affected members also had double central incisors, congenital heart defect, neck webbing, bicornuate uterus and minor anomalies including long face with hypotelorism. None of the three affected relatives had hemangiomas. The manifestations of these patients do not fit any previously described condition, and we propose they represent a new syndrome. This family is also important as it points to a possible genetic cause for at least some cases of this disorder of the ventral midline. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30682","type":"journal-article","created":{"date-parts":[[2005,4,4]],"date-time":"2005-04-04T20:46:38Z","timestamp":1112647598000},"page":"9-12","source":"Crossref","is-referenced-by-count":28,"title":["Midline raph\u00e9, sternal cleft, and other midline abnormalities: A new dominant syndrome?"],"prefix":"10.1002","volume":"135A","author":[{"given":"Francesca","family":"Forzano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piers E.F.","family":"Daubeney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M.","family":"White","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,4,4]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"crossref","first-page":"3817","DOI":"10.1242\/dev.122.12.3817","article-title":"Targeted disruption of the Hoxb2 locus in mice interferes with expression of Hoxb1 and Hoxb4","volume":"122","author":"Barrow JR","year":"1996","journal-title":"Development"},{"key":"e_1_2_4_3_1","first-page":"602","article-title":"A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and heart","volume":"107","author":"Cantrell JR","year":"1958","journal-title":"Surg Gynec Obstet"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420118"},{"key":"e_1_2_4_5_1","first-page":"A984","article-title":"Mapping of an X\u2010linked gene for ventral midline defects (the TAS gene)","volume":"53","author":"Carmi R","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200009020-00005"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520203"},{"key":"e_1_2_4_8_1","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/S0022-5223(19)43367-9","article-title":"Diagnosis and surgical correction of combined congenital defects of supra\u2010umbilical abdominal wall, lower sternum, and diaphragm","volume":"51","author":"Haller JAJ","year":"1966","journal-title":"J Thorac Cardiovasc Surg"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210127"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10398"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590110"},{"key":"e_1_2_4_12_1","first-page":"84","article-title":"Angeborene supraumbilikale Mittelbauchraphe (SMBR) und kavern\u00f6se Gesichtsh\u00e4mangiomatoseein neues Syndrom?","volume":"130","author":"Leiber B","year":"1982","journal-title":"Monatsschr Kinderheilkd"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2001.0365"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420619"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000131)90:3<243::AID-AJMG11>3.0.CO;2-1"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90229-J"}],"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.30682","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30682","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T15:17:21Z","timestamp":1696951041000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30682"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,4,4]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,5,15]]}},"alternative-id":["10.1002\/ajmg.a.30682"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30682","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,4,4]]}}}